Relevant bibliographies by topics / Inborn errors of

Academic literature on the topic 'Inborn errors of'

Author: Grafiati
Published: 4 June 2021
Last updated: 28 February 2023

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Journal articles on the topic "Inborn errors of":

1

BURTON, BARBARA K. "Inborn Errors of Metabolism." Pediatrics 80, no. 4 (October 1, 1987): 600. http://dx.doi.org/10.1542/peds.80.4.600.

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In Reply.— I thank Drs Wiswell and Weisse for their interesting observations regarding the occurrence of intracranial hemorrhage in term infants with inborn errors of metabolism. There is no question that intracranial hemorrhage is a potentially devastating, although presumably uncommon, complication of these disorders. In my personal experience, neonates with inborn errors of metabolism who have experienced intracranial hemorrhages have all had obvious predisposing factors, such as severe metabolic acidosis, which would provide a clue to the underlying diagnosis.
2

Levy, Paul A. "Inborn Errors of Metabolism." Pediatrics In Review 30, no. 4 (April 1, 2009): e22-e28. http://dx.doi.org/10.1542/pir.30.4.e22.

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3

WISWELL, THOMAS E., and MARTIN E. WEISSE. "Inborn Errors of Metabolism." Pediatrics 80, no. 4 (October 1, 1987): 599–600. http://dx.doi.org/10.1542/peds.80.4.599.

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To the Editor.— We read with great interest the review by Dr Burton on inborn errors of metabolism.1 These myriad disorders frequently present with clinical manifestations that are associated with a variety of more common neonatal diseases. Dr Burton is to be commended for presenting a lucid, rational approach for the diagnosis of these oft-confusing afflictions. However, there is another manifestation of these disorders, not previously recognized in the pediatric literature, that we wish to address.
4

Levy, Paul A. "Inborn Errors of Metabolism." Pediatrics In Review 30, no. 4 (April 1, 2009): 131–38. http://dx.doi.org/10.1542/pir.30.4.131.

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5

Kiess, Wieland, Anna Kirstein, and Skadi Beblo. "Inborn errors of metabolism." Journal of Pediatric Endocrinology and Metabolism 33, no. 1 (January 28, 2020): 1–3. http://dx.doi.org/10.1515/jpem-2019-0582.

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6

Berry, Helen K. "Inborn Errors of Metabolism." Endocrinologist 2, no. 4 (July 1992): 276–77. http://dx.doi.org/10.1097/00019616-199207000-00011.

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7

Waber, Lewis. "Inborn Errors of Metabolism." Pediatric Annals 19, no. 2 (February 1, 1990): 105–18. http://dx.doi.org/10.3928/0090-4481-19900201-08.

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8

Giugliani, Roberto, Carlos S. Dutra-Filho, Maria L. Barth, Janice C. Dutra, Moacir Wajner, Clovis M. D. Wannmacher, and Lenir T. Montagner. "Inborn Errors of Metabolism." Clinical Pediatrics 28, no. 11 (November 1989): 494–97. http://dx.doi.org/10.1177/000992288902801101.

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9

Nyhan, William L., and Deborah L. Marsden. "Inborn errors of metabolism." Current Opinion in Pediatrics 2, no. 4 (August 1990): 749–52. http://dx.doi.org/10.1097/00008480-199008000-00022.

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Molleston, Jean P., and David H. Perlmutter. "Inborn errors of metabolism." Current Opinion in Pediatrics 4, no. 5 (October 1992): 798–804. http://dx.doi.org/10.1097/00008480-199210000-00012.

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Journal articles Dissertations / Theses Books

Dissertations / Theses on the topic "Inborn errors of":

1

Ristoff, Ellinor. "Inborn errors in the metabolism of glutathione /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-392-9/.

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Pastore, Nunzia. "Gene therapy for inborn errors of metabolism." Thesis, Open University, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.590807.

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Inborn errors of liver metabolism are frequent causes of morbidity and mortality especially in children. For several of these diseases, treatment approaches depend on ,manipulation of the affected metabolic pathway by diet, drugs, vitamin cofactors, enzyme induction, end-product replacement, and alternative pathway activation. Unfortunately, these approaches often remain unsatisfactory especially in the face of illness or catabolism. Ideally, transfer of the normal genes in the liver cells that are defective might restore the metabolic function. The goal of my PhD thesis was to develop gene-based therapeutic strategies to correct a life-threatening inborn error of liver metabolism, Crigler-Najjar syndrome type I (CNI). CNI is a severe inborn error of bilirubin metabolism due to mutations of the uridine diphospho-glucuronosyl transferase lAl (UGTIA1) gene, Affected patients have elevations of serum bilirubin, and they have to spend extended hours under bilirubin lights throughout childhood and adolescence. Despite this therapy, they remain at risk of brain damage when intercurrent infections may increase production of bilirubin above that which can be controlled by the bilirubin light therapy. Thus, patients with CNI often are advised to consider liver transplantation. Therefore, alternative therapies are highly needed to overcome the mortality and morbidity associated with transplantation procedure, and risks of life-long immunosuppression. Gene therapy has the potential to provide a definitive cure for patient with CNI My studies have focused on the development of gene therapy strategies for this disease. First, I investigated in Gunn rats, the animal model for CNI, the efficacy of adeno-associated viral (AA V) vector-mediated muscledirected gene therapy and I found that serotype I AA V vector expressing UOTIAI resulted in expression of UGTIAl protein and functionally active enzyme in injected muscles, and aj 50% reduction in serum bilirubin levels for at least 1 year post-injection. Taken together, these data show that clinically relevant and sustained reduction of serum bilirubin levels can be achieved by simple and safe intramuscular injections. Following initial problems with intravenous injections of AA V2 vector, a major success has been achieved with AA V2/8 vectors for liver-directed gene therapy of hemophilia. Encouraged by these results and by the possibility of achieving full correction of the hyperbilirubineotia with systemic delivery, next I focused on the design and optimization of an AA V2I8 vector for liver-directed gene therapy of CNI. I generated multiple expression cassettes expressing the UGTIAl gene inserted into the AA V2/8 vectors for in vivo testing. The results of these studies showed that AAV2/8 vector with codon optimized UGTlAI gene tender the control of the hepatocyte-specific LP} promoter resulted in improved and sustained correction of hyperbilirubinemia in Gunn rats. Taken together, these data demonstrate the development of an optimal expression cassette for liver-directed gene therapy of CNI and form the preclinical basis for the development of a gene therapy trial for this severe disorder.
3

Kocic, Vesna Garovic. "Methionine auxotrophy in inborn errors of cobalamin metabolism." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=56756.

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Several of the inborn errors of vitamin B$ sb{12}$ (cobalamin, Cbl) metabolism (cblC, cblD, cblE, cblF, cblG) are associated with homocystinuria and hypomethioninemia due to a functional deficiency of the cytoplasmic enzyme methionine synthase which requires methylcobalamin (MeCbl) as a cofactor. We compared the growth of cultured fibroblasts from controls with those from patients with a selective deficiency of MeCbl (cblE and cblG) and with those from patients with a defect in both MeCbl and adenosylcobalamin (AdoCbl) (cblC, cblD and cblF). Cells were grown in methionine and folic acid free media and in fully supplemented medium. Control cells were able to grow in the deficient medium supplied with homocysteine, cobalamin and folate, while mutant cells were not, due to their inability to synthesize methionine from its immediate metabolic precursor, homocysteine. This differential growth is useful for screening for genetic defects of methionine biosynthesis. Moreover, by correcting methionine auxotrophy in these cells, it may be possible to isolate genes which code for the products that are deficient in these disorders.
4

Byck, Susan. "Cross-correctional studies in inborn errors of vitamin B12 metabolism." Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=59259.

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Human skin fibroblasts derived from patients with all 7 known inborn errors of vitamin B$ sb{12}$ metabolism have been studied for functional integrity of methylmalonyl CoA mutase and methionine synthase. Cocultivation of cblC and cblF fibroblasts in the absence of polyethylene glycol resulted in a twofold increase over the expected in both ($ sp{14}$C) propionate and ($ sp{14}$C) methyltetrahydrofolate incorporation into acid-precipitable material, suggesting that metabolic cooperation between cells occurs. CblD fibroblasts, which are biochemically similar to cblC cells (Goodman et al, 1970; Willard et al, 1977), do not cooperate metabolically when mixed with cblF cells. Partial correction in phenotype was seen in mixtures of cblD and cblG cells, but not cblC and cblG cells. These observations lend further support for the division of cblC and cblD disease into two discrete complementation classes. Cocultivation of cblF fibroblasts with both cblE and cblG cells also resulted in partial correction in phenotype.
($ sp{14}$C) Propionate incorporation in both cblC and cblF cells exposed to conditioned medium from control cells was increased more than twofold. ($ sp{14}$C) methyltetrahydrofolate incorporation in cblC cells exposed to conditioned medium from cblF cells was increased twofold. This suggests the presence of a diffusible factor correcting the defect in the mutant cell lines.
5

Black, Duncan Arthur. "Aspects of purine and pyrimidine metabolism." Doctoral thesis, University of Cape Town, 1989. http://hdl.handle.net/11427/26590.

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In Chapter 1 a review of the literature concerning aspects of erythrocyte membrane transport and metabolism, and purine and pyrimidine metabolism is presented. The effects of pH, pO₂ and inorganic phosphate (Pi) on the uptake and metabolism of hypoxanthine by erythrocytes has been studied in Chapter 2. Uptake of hypoxanthine and accumulation of inosine 5'-monophosphate (IMP) were markedly increased at acid pH, high external phosphate concentrations, and low pO₂. Release of accumulated IMP as hypoxanthine occurred at alkaline pH values and low external phosphate concentrations. Conditions favouring IMP accumulation gave rise, in the absence of hypoxanthine, to a corresponding increase in 5'-phosphoribosyl-1-pyrophosphate (PRPP). Intracellular phosphate concentrations were markedly pH dependent and a model is presented whereby hypoxanthine uptake and release are controlled by intracellular concentrations of inorganic phosphate and 2,3- bisphosphoglycerate (2,3-DPG). These allosteric effectors influence, in opposing ways, two enzymes governing IMP accumulation, namely PRPP synthetase and 5'-nucleotidase. These metabolic properties suggest that the erythrocyte could play a role in the removal of hypoxanthine from anoxic tissue. In Chapter 3 the kinetics and mechanism of transport of orotate across the human erythrocyte membrane and the effect of pH and inorganic phosphate on its metabolism (in the erythrocyte) have been studied. It has been shown that orotate enters erythrocytes with non-saturable kinetics and with a capacity of 190 μmoles/1 packed cells/min at a concentration of 4-6 mmolar. The presence of competition for transport by a number of anions and the lack of competition by uridine is indicative of transport by a general anion transporter, with the ability for concentrative uptake in the absence of other external anions being compatible with transport via a ping-pong mechanism. Inhibition of transport by the specific band 3 inhibitors DIDS and CHCA confirm that transport is via the band 3 anion transporter. This explains the lack of significant uptake of orotate by most differentiated tissues which lack the intact band 3 protein. However, the demonstration of band 3 in rat hepatocytes (Cheng and Levy, 1980) provides a mechanism for the orotate transport which has been observed in liver (Handschumacher and Coleridge, 1979). Changes in pH and inorganic phosphate (Pi) concentrations have been shown to have marked effects on the relative quantities of metabolic products produced by the erythrocyte from orotate. There was an increase in orotate metabolised with increasing Pi, an effect augmented by lowering the pH, and most easily explained by the allosteric activation of PRPP synthetase by Pi. The increase in UTP levels with decreasing pH may be the consequence of both increased PRPP availability for the formation of uridine nucleotide from orotate, and decreased conversion of UMP to uridine by pyrimidine 5'-nucleotidase, which is known to be inhibited by phosphate. The accumulation of UDP sugars is optimal at a phosphate concentration of 10 mmolar, which is unexplained but would be compatible with an inhibitory effect of Pi on CTP synthetase. A PRPP wasting cycle at alkaline pH values is proposed to explain the apparent paradox where no PRPP was observed to accumulate in erythrocytes (Chapter 2) at pH values of 7.6 and above in the presence of 10 mmolar phosphate and no added hypoxanthine, yet the metabolism of orotate, which is a PRPP utilising reaction, at alkaline pH values was readily demonstrable here. This (apparent paradox) can be resolved if one assumes that even in the absence of added hypoxanthine and demonstrable intracellular IMP there are sufficient quantities of hypoxanthine and/or IMP to maintain a PRPP wasting cycle at alkaline pH values. The cycle is interrupted at acidic pH values as phosphate levels rise and inhibit 5'-nucleotidase, an effect augmented by the decreasing levels of 2,3-DPG which accompany decreasing pH. This wasting cycle has recently been confirmed by P. Berman (unpublished). The kinetics of orotate uptake by erythrocytes and its eventual release as uridine provides a role for the erythrocyte in the transport and distribution of pyrimidines to peripheral tissues. A model is proposed and involves the de novo production of orotate in the liver. In the next step erythrocytes take up the orotate secreted by the liver into the circulation, convert it into an intermediate buffer store of uridine nucleotides, whose distribution is a function of pH and phosphate concentration, and eventually release it as uridine, which is a readily available form of pyrimidine for utilisation by peripheral nucleated cells. The enhancement of uptake of labelled orotate into nucleic acids of cultured cells is demonstrated here. The degradative half of the cycle proposes that uracil and palanine are the predominant degradative forms of pyrimidines produced by peripheral cells, and their ultimate metabolic fate is complete catabolism in the liver to CO₂ and water. In the final chapter the possible role of the human erythrocyte in the prevention of reperfusion injury has been investigated. The development of a model of renal ischaemia in the rat is described. The ability of human erythrocytes, "primed" by preincubating in acid medium of high Pi concentration and low pO₂, to take up hypoxanthine in a concentrative manner when perfused through ischaemic rat kidney is demonstrated. Attempts to demonstrate improved survival and renal function in rats with "primed" human erythrocytes prior to reperfusion were, however, unsuccessful. It is further demonstrated that "unprimed" human erythrocytes, resident in ischaemic rat kidney for 3 hours, take up hypoxanthine and convert it to IMP. that erythrocytes could play a physiological prevention of reperfusion injury.
6

Moras, Emily. "Mitochondrial cobalamin binding proteins in patients with inborn errors of cobalamin metabolism." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=97972.

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Vitamin B12 (cobalamin, Cbl) is required as a cofactor for two human enzymes: methylmalonyl-CoA mutase (MCM) and methionine synthase (MS). Fibroblasts from patients with inborn errors of cobalamin metabolism have been classified into nine distinct complementation classes ( cblA-cblH and mut). Previous studies have shown that cobalamin binds MCM in mitochondria and MS in the cytosol. Cobalamin binding patterns were analyzed in crude mitochondrial fractions obtained from normal and mutant fibroblasts. Crude mitochondrial fractions from wildtype fibroblasts confirmed that the majority of [57Co]Cbl eluted with MCM. However, in six of the nine disorders, at least one previously unidentified mitochondrial cobalamin binding protein was observed to bind [57Co]Cbl. The proportion of [57Co]Cbl that binds, is increased when a deficiency in either adenosylcobalamin synthesis or utilization prevents binding to MCM. Furthermore, unique cobalamin binding profiles emerged, demonstrating how known mutations in these patients affect cobalamin binding to accessory proteins.
7

Yamani, Lama. "Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism." Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=112320.

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Cobalamin must be metabolized intracellularly in order to bind two enzymes: methionine synthase in cytoplasm and methylmalonyl-CoA mutase in mitochondria. Defects in this process cause different inborn errors of cobalamin metabolism (cblA-cblG and mut). A previous study described a cobalamin-binding protein, in addition to methylmalonyl-CoA mutase, in crude mitochondrial fractions. The amount of [57Co]cobalamin bound to this protein was increased in cblB, mut and cblD variant2 cell lines, compared to control cell lines. In the present study, this protein was identified as transcobalamin (TC). Mitochondrial fractions from a cblB cell line were incubated with anti-TC antibodies, which precipitated the cobalamin-bound protein. Analysis of mitochondrial and cytoplasmic fractions isolated from a chloroquine-incubated cblF cell line showed that isolated mitochondrial fractions contain lysosomal material, suggesting that the identified TC is lysosomal. Quantification of cobalamin-bound TC levels in whole cell extracts showed significant increases in cblB and mut groups compared to control cell lines.
8

Lerner-Ellis, Jordan. "The molecular characterization of inborn errors of vitamin B₁₂ metabolism : cblA, cblB and cblC." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111863.

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This work investigates the molecular basis of three genetic diseases of vitamin B12 metabolism: cblA, cblB and cblC. Two genes responsible for isolated forms of methylmalonic aciduria types cblA and cblB, called MMAA and MMAB respectively, were recently identified. We sequenced the coding sequence and flanking regions of the MMAA and MMAB genes from the gDNA of 37 cblA and 35 cblB patient cell lines and identified 31 novel mutations in total. The biochemical properties of these cell lines were examined in cell culture. Haplotype analysis was used to investigate the history of mutations. The occurrence of both rare and common mutations were identified. Attempts were made to make genotype-phenotype correlations and to understand the effects of mutations on protein function. In the MMAA gene 18 novel mutations were identified, eight of which were common to two or more individuals. One mutation, c.433C>T represented 43% of pathogenic alleles and a common haplotype was identified. Diagnostic tests were designed for every mutation identified. In the MMAB gene, 13 novel mutations were identified. Most mutations were clustered in exon 7. One mutation, c.556C>T accounted for 33% of pathogenic alleles, associated with disease presentation in the first year of life, was observed on a common haplotype and seen almost exclusively in European individuals. We used a combination of linkage, sibling pair, homozygosity mapping and haplotype analyses to refine the disease locus and identify the gene responsible for cblC disease on chromosome 1p called MMACHC. We examined the gDNA of 244 cblC patient cell lines and identified 42 different mutations. The large number of patient samples allowed for the identification of specific genotype phenotype correlations. Of the mutations with elevated frequency in the patients examined, the c.271dupA and c.331C>T mutations were associated with early onset disease whereas c.394C>T was associated with late onset disease. Other missense mutations were also associated with onset of disease later in life. Seven mutations showed clustering by ethnicity. Eight SNPs were identified spanning the gDNA of the MMACHC gene and allowing for the identification of specific haplotypes and the determination of recurrent vs common mutations. Infection of the wild-type MMACHC gene into cblC patient fibroblast cell lines showed correction of the cellular phenotype. Examination of EST databases and northern blot analysis demonstrated MMACHC is ubiquitously expressed in humans with higher levels in fetal liver. Multiple sequence alignment of genomic DNA in eukaryotes and of the polypeptide sequence demonstrated that MMACHC is well conserved in eukaryotes. Two functional domains were identified in the MMACHC gene product by comparison with bacterial genes involved in vitamin B12 related functions: a putative vitamin B 12 binding domain and a TonB-like domain. Molecular modeling demonstrated that the C-terminal region of the gene product folds similarly to TonB from E. coli and suggesting that the C-terminal region of MMACHC may function in a similar manner.
9

Dolenga, Michael Peter. "Metabolic studies of prolidase deficiency in cultured human fibroblasts." Thesis, McGill University, 1991. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=61190.

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Prolidase deficiency (McKusick 26413) is a rare autosomal recessive disorder characterized by iminodipeptiduria, skin lesions and mental retardation. The enzyme prolidase hydrolyzes dipeptides containing C-terminal proline or hydroxyproline.
The results presented here indicate that prolidase plays a major role in the recycling of dipeptide bound proline. Control fibroblasts were able to use iminodipeptides in lieu of proline to sustain normal growth and protein synthesis whereas prolidase deficient cells were not.
Iminodipeptides added to the media of control and mutant cells showed no adverse effects on protein synthesis or cell growth. These results are consistent with a mechanism of biochemical pathology in which proline deprivation caused by the enzyme deficit is the cause of damage to skin cells.
Prolidase regulation by product and substrate was studied. A two fold decrease of prolidase activity was observed in fibroblasts grown in excess proline. However, cells grown in medium in which iminodipeptides replaced proline showed no significant difference in prolidase activity.
10

Mandla, Suzan (Suzan G. ). "Studies on mammalian 25-hydroxyvitamin D3-24-hydroxylase." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=39363.

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This thesis describes three studies on mammalian 25-hydroxyvitamin D$ sb3$-24-hyroxylase (24-hydroxylase), the first enzyme in the C24-oxidation pathway, a major catabolic pathway for vitamin D metabolites in kidney and other target tissues for vitamin D hormone. The first study examines the involvement of protein kinase C in the regulation of 24-hydroxylase activity in mouse kidney. Evidence is presented supporting a stimulatory role for protein kinase C in the regulation of constitutive, but not inducible, renal 24-hydroxylase. The kinase is also implicated in the aberrant expression of renal vitamin D metabolism in the mutant X-linked hypophosphatemic (Hyp) mouse. The second study investigates the mechanism(s) by which forskolin, a classic activator of adenylate cyclase, inhibits 24-hydroxylase activity in mouse kidney. Both the traditional cAMP-dependent mechanism and a novel cAMP-independent mode of action are observed. A direct interaction between forskolin and the substrate binding site of 24-hydroxylase is suggested for the latter based on kinetic analyses and structural similarities between the diterpene and the steroid substrate for the hydroxylase. The third study addresses the structural relationship between renal 1-hydroxylase and renal and target cell 24-hydroxylase(s) by assessing 24-hydroxylase activity in patients with vitamin D dependency rickets type I (VDDR-I), a Mendelian disorder of 1-hydroxylase function. Both constitutive renal 24-hydroxylase, indirectly ascertained through measurement of circulating levels of relevant vitamin D metabolites, and inducible target cell 24-hydroxylase, directly measured in cultured skin fibroblasts, are shown to be intact in VDDR-I patients undergoing calcitriol therapy. These findings suggest that the 1- and 24-hydroxylase activities likely represent or contain distinct gene products.
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Books on the topic "Inborn errors of":

1

Jürgen, Schaub, Van Hoof François 1935-, Vis H. L, Nestlé Nutrition S. A, and Nestlé Nutrition Workshop (24th : 1989 : Brussels, Belgium), eds. Inborn errors of metabolism. New York: Raven Press, 1991.

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1921-, Fernandes J., Saudubray J. M. 1937-, and Tada K. 1930-, eds. Inborn metabolic diseases: Diagnosis and treatment. Berlin: Springer-Verlag, 1990.

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Houser, Christine M. Pediatric Genetics and Inborn Errors of Metabolism. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-0581-2.

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Walter, John, J. M. Saudubray, and Georges Van den Berghe. Inborn metabolic diseases: Diagnosis and treatment. 5th ed. Berlin: Springer, 2012.

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Benson, P. F. Genetic biochemical disorders. Oxford: Oxford University Press, 1986.

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Benson, P. F. Genetic biochemical disorders. Oxford: Oxford University Press, 1985.

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Benson, P. F. Genetic biochemical disorders. Oxford [Oxfordshire]: Oxford University Press, 1985.

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B, Holton J., ed. The Inherited metabolic diseases. Edinburgh: Churchill Livingstone, 1987.

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Salzer, Elisabeth. Identifying Novel Inborn Errors of the Immune System. Wiesbaden: Springer Fachmedien Wiesbaden, 2017. http://dx.doi.org/10.1007/978-3-658-16796-7.

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Kari, Carol. Gaucher's disease: A nurse's handbook : Clinical Center. [Bethesda, Md.?]: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.

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Book chapters on the topic "Inborn errors of":

1

Kamboj, Manmohan K. "Inborn Errors of Metabolism." In Neurodevelopmental Disabilities, 53–67. Dordrecht: Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-0627-9_4.

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Holzman, Robert S., Thomas J. Mancuso, Navil F. Sethna, and James A. DiNardo. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review, 377–86. New York, NY: Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-1617-4_24.

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Holzman, Robert S. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review, 607–20. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-60656-5_43.

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Holzman, Robert S. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review, 435–45. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-48448-8_30.

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Arnemann, J. "Inborn errors of metabolism." In Springer Reference Medizin, 1239–40. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_3508.

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Arnemann, J. "Inborn errors of metabolism." In Lexikon der Medizinischen Laboratoriumsdiagnostik, 1. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-49054-9_3508-1.

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Goetsch, Allison L., Dana Kimelman, and Teresa K. Woodruff. "Inborn Errors of Metabolism." In Fertility Preservation and Restoration for Patients with Complex Medical Conditions, 113–39. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-52316-3_7.

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Roesser, Jessica L. "Inborn Errors of Metabolism." In Encyclopedia of Autism Spectrum Disorders, 1–2. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-6435-8_27-3.

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Burlina, Alberto, Andrea Celato, and Alessandro P. Burlina. "Inborn Errors of Metabolism." In Prognosis of Neurological Diseases, 217–47. Milano: Springer Milan, 2015. http://dx.doi.org/10.1007/978-88-470-5755-5_19.

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Babineau, Shannon E. "Inborn Errors of Metabolism." In Mount Sinai Expert Guides, 326–39. Chichester, UK: John Wiley & Sons, Ltd, 2016. http://dx.doi.org/10.1002/9781118621042.ch29.

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Conference papers on the topic "Inborn errors of":

1

Fatouh, Mohamed. "597 Organization and provision of services for better management of inborn errors of metabolism." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference, Liverpool, 28–30 June 2022. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2022. http://dx.doi.org/10.1136/archdischild-2022-rcpch.320.

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Andrea, Largent, Kathi Lambert, Chiang Kristy, Shumlak Natali, Quan-Zhen Li, Kelly Hudkins, Denny Liggitt, et al. "203 Insights into lupus biology from inborn errors of immunity: immunopathogenesis of STAT1 gain-of- function autoimmunity." In LUPUS 21ST CENTURY 2022 CONFERENCE, Abstracts of Sixth Scientific Meeting of North American and European Lupus Community, Tucson, AZ, USA – September 20–23, 2022. Lupus Foundation of America, 2022. http://dx.doi.org/10.1136/lupus-2022-lupus21century.7.

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Cunha, Daniela, Brenno Gonçalves, Tamiris Barros, and Andréa Silva. "A variant found in the RELA gene in a patient with autoinflammatory disease: Inborn Errors of Immunity?" In International Symposium on Immunobiologicals. Instituto de Tecnologia em Imunobiológicos, 2022. http://dx.doi.org/10.35259/isi.2022_52181.

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Sampagar, Abhilasha, Sudeep Gaddam, and Anushree Cm. "1637 Spectrum of cases of inborn errors of immunity and their clinical and laboratory profile: a case series from a tertiary care hospital in South India." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 15 June 2021–17 June 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-rcpch.762.

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Santhanakrishnan, Arvind, Trent Nestle, Brian Moore, Ajit P. Yoganathan, and Matthew L. Paden. "Characterization of a Low Extracorporeal Volume, High Accuracy Pediatric Continuous Renal Replacement Therapy Device." In ASME 2012 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2012. http://dx.doi.org/10.1115/sbc2012-80210.

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The incidence of acute kidney injury (AKI) is commonly seen in critically ill children, the origins of which may be traced to a wide range of conditions such as inborn errors of metabolism, sepsis, congenital heart defects, bone marrow and organ transplantation, and to a lesser extent from multiple organ dysfunction syndrome (MODS) [1]. It is vital to provide a form of fluid and electrolyte clearance in these patients until native renal function improves. Nearly 3,600 critically ill children per year with acute kidney injury receive life-saving continuous renal replacement therapy (CRRT) in the United States. However, there is no CRRT device approved by the Food and Drug Administration for use in pediatric patients. Thus, clinicians unsafely adapt adult CRRT devices for use in the pediatric patients due to lack of safer alternatives. Complications observed with using adult adapted CRRT devices in children include hypotension, hemorrhage, thrombosis, temperature instability, inaccurate fluid balance between ultrafiltrate (UF) removed from and replacement fluid (RF) delivered to the patient, electrolyte disorders, and alteration of drug clearance. This research addresses this unmet clinical need through the design, mechanical and biological characterization of a pediatric specific Kidney Injury and Dysfunction Support (KIDS) CRRT device that provides high accuracy in fluid balance, reduces extracorporeal blood volume, and eliminates other problems associated with using adapted adult CRRT devices in children.
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James, S., A. Sheerin, L. Grabowsky, S. Senanayake, Z. Abidin, J. O’Byrne, E. Treacy, and G. Pastores. "21 Cardiac investigations in adult inborn error of metabolism cohort." In Irish Cardiac Society Annual Scientific Meeting & AGM, Thursday October 17th – Saturday October 19th 2019, Galway, Ireland. BMJ Publishing Group Ltd and British Cardiovascular Society, 2019. http://dx.doi.org/10.1136/heartjnl-2019-ics.21.

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Kutscherjawy, E., P. Hacke, K. Pauli, S. König, A. Tannous, and G. Tarusinov. "Tachyarrhythmia as a Primary Presentation in a Patient with Inborn Error of Metabolism—A Case Report." In The 54th Annual Meeting of the German Society for Pediatric Cardiology (DGPK). Georg Thieme Verlag KG, 2022. http://dx.doi.org/10.1055/s-0042-1742967.

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Bons, Jeffrey P., Rory Blunt, and Steven Whitaker. "A Comparison of Techniques for Particle Rebound Measurement in Gas Turbine Applications." In ASME Turbo Expo 2015: Turbine Technical Conference and Exposition. American Society of Mechanical Engineers, 2015. http://dx.doi.org/10.1115/gt2015-43766.

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The rebound characteristics of 100–500μm quartz particles from an aluminum surface were imaged using the particle shadow velocimetry (PSV) technique. Particle trajectory data were acquired over a range of impact velocity (30–90 m/s) and impact angle (20°–90°) typical for gas turbine applications. The data were then analyzed to obtain coefficients of restitution (CoR) using four different techniques: (1) individual particle rebound velocity divided by the same particle’s inbound velocity (2) individual particle rebound velocity divided by inbound velocity taken from the mean of the inbound distribution of velocities from all particles (3) rebound velocity distribution divided by inbound velocity distribution related using distribution statistics and (4) the same process as (3) with additional precision provided by the correlation coefficient between the two distributions. It was found that the mean and standard deviation of the CoR prediction showed strong dependence on the standard deviation of the inbound velocity distribution. The two methods that employed statistical algorithms to account for the distribution shape [methods (3) and (4)] actually overpredicted mean CoR by up to 6% and CoR standard deviation by up to 100% relative to method (1). The error between the methods is shown to be a strong (and linear) function of correlation coefficient, which is typically 0.2–0.6 for experimental CoR data. Non-Gaussianity of the distributions only accounts for up to 1% of the error in mean CoR, and this largely from the non-zero skewness of the inbound velocity distribution. Particle rebound data acquired using field average techniques that do not provide an estimate of correlation coefficient are most accurately evaluated using method (2). Method (3) can be used with confidence if the standard deviation of the inbound velocity distribution is less than 10% of the mean velocity, or if a linear correction based on an assumed correlation coefficient is applied.
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Stenzier, W., H. Ostermann, K. Ullrich, and J. van de loo. "ALTERATIONS OF THE HAEMOSTATIC SYSTEM IN SEVEN PATIENTS WITH HOMOCYSTINURIA." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643057.

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Homocystinuria is an inborn error of methionine metabolism accompanied by an increased risk of thromboembolism. Seven patients (5 female and 2 male) aged 16 to 25 years were investigated. Some showed highly pathological homocystine serum levels during the last year despite treatment. One patient’s history revealed a thrombotic event. All patients were studied for changes in coagulation and the platelet and fibrinolytic systems (the latter before and after venous occlusion). Among the data obtained the following were pathological:After venous occlusion normal values were obtained. These findings show a weak activation of both coagulation and the fibrinolytic system suggesting a prethrombotic state with consumption of protein C. It remains unclear whether the activation of the fibrinolytic system reflects endothelial cell damage associated with homocystinuria or a reaction to the activation of the coagulation system.
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Shinwari, Khyber, Guojun Liu, Mikhail A. Bolkov, Irina A. Tuzankina, and Valery A. Chereshnev. "Gene expression and pathway analysis in patients with inborn error of TLRs and IL-IRs signaling using microarray data." In ACTUAL PROBLEMS OF ORGANIC CHEMISTRY AND BIOTECHNOLOGY (OCBT2020): Proceedings of the International Scientific Conference. AIP Publishing, 2022. http://dx.doi.org/10.1063/5.0068994.

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Reports on the topic "Inborn errors of":

1

Tao, Yang, Victor Alchanatis, and Yud-Ren Chen. X-ray and stereo imaging method for sensitive detection of bone fragments and hazardous materials in de-boned poultry fillets. United States Department of Agriculture, January 2006. http://dx.doi.org/10.32747/2006.7695872.bard.

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As Americans become increasingly health conscious, they have increased their consumptionof boneless white and skinless poultry meat. To the poultry industry, accurate detection of bonefragments and other hazards in de-boned poultry meat is important to ensure food quality andsafety for consumers. X-ray imaging is widely used for internal material inspection. However,traditional x-ray technology has limited success with high false-detection errors mainly becauseof its inability to consistently recognize bone fragments in meat of uneven thickness. Today’srapid grow-out practices yield chicken bones that are less calcified. Bone fragments under x-rayshave low contrast from meat. In addition, the x-ray energy reaching the image detector varieswith the uneven meat thickness. Differences in x-ray absorption due to the unevenness inevitablyproduce false patterns in x-ray images and make it hard to distinguish between hazardousinclusions and normal meat patterns even by human visual inspection from the images.Consequently, the false patterns become camouflage under x-ray absorptions of variant meatthickness in physics, which remains a major limitation to detecting hazardous materials byprocessing x-ray images alone.Under the support of BARD, USDA, and US Poultry industries, we have aimed todeveloping a new technology that uses combined x-ray and laser imaging to detect bonefragments in de-boned poultry. The technique employs the synergism of sensors of differentprinciples and has overcome the deficiency of x-rays in physics of letting x-rays work alone inbone fragment detection. X-rays in conjunction of laser-based imaging was used to eliminatefalse patterns and provide higher sensitivity and accuracy to detect hazardous objects in the meatfor poultry processing lines.Through intensive research, we have met all the objectives we proposed during the researchperiod. Comprehensive experiments have proved the concept and demonstrated that the methodhas been capable of detecting frequent hard-to-detect bone fragments including fan bones andfractured rib and pulley bone pieces (but not cartilage yet) regardless of their locations anduneven meat thickness without being affected by skin, fat, and blood clots or blood vines.

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