Bibliografie tematiche / Metabolism, Inborn errors of

Indice

  1. Articoli di riviste
  2. Tesi
  3. Libri
  4. Capitoli di libri
  5. Atti di convegni

Letteratura scientifica selezionata sul tema "Metabolism, Inborn errors of"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 31 luglio 2024

Cita una fonte nei formati APA, MLA, Chicago, Harvard e in molti altri stili

Scegli il tipo di fonte:

Consulta la lista di attuali articoli, libri, tesi, atti di convegni e altre fonti scientifiche attinenti al tema "Metabolism, Inborn errors of".

Accanto a ogni fonte nell'elenco di riferimenti c'è un pulsante "Aggiungi alla bibliografia". Premilo e genereremo automaticamente la citazione bibliografica dell'opera scelta nello stile citazionale di cui hai bisogno: APA, MLA, Harvard, Chicago, Vancouver ecc.

Puoi anche scaricare il testo completo della pubblicazione scientifica nel formato .pdf e leggere online l'abstract (il sommario) dell'opera se è presente nei metadati.

Articoli di riviste sul tema "Metabolism, Inborn errors of"

1

BURTON, BARBARA K. "Inborn Errors of Metabolism". Pediatrics 80, n. 4 (1 ottobre 1987): 600. http://dx.doi.org/10.1542/peds.80.4.600.

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
2

Levy, Paul A. "Inborn Errors of Metabolism". Pediatrics In Review 30, n. 4 (1 aprile 2009): e22-e28. http://dx.doi.org/10.1542/pir.30.4.e22.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
3

WISWELL, THOMAS E., e MARTIN E. WEISSE. "Inborn Errors of Metabolism". Pediatrics 80, n. 4 (1 ottobre 1987): 599–600. http://dx.doi.org/10.1542/peds.80.4.599.

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
4

Levy, Paul A. "Inborn Errors of Metabolism". Pediatrics In Review 30, n. 4 (1 aprile 2009): 131–38. http://dx.doi.org/10.1542/pir.30.4.131.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
5

Kiess, Wieland, Anna Kirstein e Skadi Beblo. "Inborn errors of metabolism". Journal of Pediatric Endocrinology and Metabolism 33, n. 1 (28 gennaio 2020): 1–3. http://dx.doi.org/10.1515/jpem-2019-0582.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
6

Berry, Helen K. "Inborn Errors of Metabolism". Endocrinologist 2, n. 4 (luglio 1992): 276–77. http://dx.doi.org/10.1097/00019616-199207000-00011.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
7

Waber, Lewis. "Inborn Errors of Metabolism". Pediatric Annals 19, n. 2 (1 febbraio 1990): 105–18. http://dx.doi.org/10.3928/0090-4481-19900201-08.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
8

Giugliani, Roberto, Carlos S. Dutra-Filho, Maria L. Barth, Janice C. Dutra, Moacir Wajner, Clovis M. D. Wannmacher e Lenir T. Montagner. "Inborn Errors of Metabolism". Clinical Pediatrics 28, n. 11 (novembre 1989): 494–97. http://dx.doi.org/10.1177/000992288902801101.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
9

Nyhan, William L., e Deborah L. Marsden. "Inborn errors of metabolism". Current Opinion in Pediatrics 2, n. 4 (agosto 1990): 749–52. http://dx.doi.org/10.1097/00008480-199008000-00022.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
10

Molleston, Jean P., e David H. Perlmutter. "Inborn errors of metabolism". Current Opinion in Pediatrics 4, n. 5 (ottobre 1992): 798–804. http://dx.doi.org/10.1097/00008480-199210000-00012.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
Più fonti

Tesi sul tema "Metabolism, 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/.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
2

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

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
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.

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
4

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

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
5

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.

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
6

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.

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
7

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.

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
8

Farah, Rita S. "Intragenic complementation in methylmalonyl CoA mutase". Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=55444.

Testo completo
Abstract (sommario):
Methylmalonic aciduria (MMA) is an autosomal recessive metabolic disorder with an incidence of 1 in 48,000, which may be due to a defect in the mitochondrial homodimeric enzyme methylmalonyl CoA mutase (mut MMA). mut MMA is subdivided into $mut sp circ$ and $mut sp-$ subclasses on the basis of complementation analysis; $mut sp circ$ cell lines have very low incorporation of ($ sp{14}$C) from propionate into acid precipitable material while incorporation in $mut sp-$ cells is increased when cells are incubated in cobalamin. Intragenic complementation was first observed with WG 1130, a $mut sp circ$ fibroblast line with a homozygous R93H mutation, that is capable of complementing MCM activity when fused with some $mut sp circ$ and some $mut sp-$ cells (1). Extensive intragenic complementation in mut MMA was subsequently observed. Fibroblasts cultured from thirteen unrelated patients (6 $mut sp-$, 7 $mut sp circ$) were fused in all possible pairwise combination and MCM activity was assayed in the heterokaryons by measuring the incorporation of ($ sp{14}$C) from propionate into acid precipitable material. Intragenic complementation, indicated by stimulation of ($ sp{14}$C) -propionate incorporation following cell fusion with polyethylene glycol, was observed in fusions involving twelve of the thirteen strains. Of these thirteen strains, mutations have been identified in six; four have a homozygous mutation (WG 1130 (R93H), WG 1511 (H678R), WG 1610 (G717V), WG 1609 (G630E)), and two cell lines are compound heterozygous (WG 1681 (G623R and G703R), WG 1607 (W105R and A377E)); the remainders are yet to be determined. These intragenic complementations will provide information for grouping the mutations in defined domains in order to correlate structure and function of MCM.
Gli stili APA, Harvard, Vancouver, ISO e altri
9

Qureshi, Amber A. (Amber Ateef). "The molecular characterization of mutations at the methylmalonyl CoA mutase locus involved in interallelic complementation /". Thesis, McGill University, 1993. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=69686.

Testo completo
Abstract (sommario):
Methylmalonic aciduria is an autosomal recessive metabolic disorder, which may be due to a defect in the methylmalonyl CoA mutase (MCM) apoenzyme. The mut$ sp circ$ mutation is characterized by undetectable enzyme activity in cell extracts, and by the low incorporation of ($ sp{14}$C) propionate in the presence of hydroxocobalamin in culture. A mut$ sp circ$ fibroblast cell line, WG 1681, from an African-American male infant was shown to complement another mut$ sp circ$ cell line, WG 1130. Subsequent cloning and sequencing of cDNA from WG 1681 identified two previously described homozygous polymorphisms: H532R and V671I(1). In addition, compound heterozygosity was observed for two novel changes at highly conserved sites: G623R and G703R. Hybridization of allele specific oligonucleotides to PCR amplified MCM exons from WG 1681 and family members identified a clinically normal mother, sister and half-brother as carriers of the G703R change in cis with both polymorphisms. The putative father was not identified as a carrier of the G623R change. transfection of each change, singly and in cis with both polymorphisms, into GM1673 cells demonstrated a lack of stimulation of ($ sp{14}$C) propionate uptake in the absence and presence of OH-Cbl, in comparison to controls. Co-transfection of each separate mutation with the previously identified R93H mutation of WG 1130 (2) stimulated propionate uptake. These results indicate that G623R and G703R are novel mutations responsible for deficient MCM activity and the mut$ sp circ$ phenotype in WG 1681, and both mutations are independently capable of complementing the R93H mutation of WG 1130.
Gli stili APA, Harvard, Vancouver, ISO e altri
10

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.

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
Più fonti

Libri sul tema "Metabolism, Inborn errors of"

1

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

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
2

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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
3

H, Fensom Anthony, a cura di. Genetic biochemical disorders. Oxford: Oxford University Press, 1985.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
4

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

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
5

H, Fensom Anthony, a cura di. Genetic biochemical disorders. Oxford: Oxford University Press, 1986.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
6

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.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
7

1921-, Fernandes J., Saudubray J. M. 1937- e Van den Berghe, Georges, 1938-, a cura di. Inborn metabolic diseases: Diagnosis and treatment. 2a ed. Berlin: Springer-Verlag, 1995.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
8

International Congress of Inborn Errors of Metabolism (4th 1987 Sendai-shi, Miyagi-ken, Japan). Recent advances in inborn errors of metabolism: Proceedings of the Fourth International Congress of Inborn Errors of Metabolism, Sendai, Japan, May 28-30, 1987. A cura di Tada K. 1930-, Colombo Jean Pierre e Desnick Robert J. Basel: Karger, 1987.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
9

R, Scriver Charles, a cura di. The metabolic & molecular bases of inherited disease. 8a ed. New York: McGraw-Hill, 2001.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
10

Nyhan, William L., Johannes Zschocke e Georg F. Hoffmann. Inherited metabolic diseases: A clinical approach. Heidelberg: Springer, 2010.

Cerca il testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
Più fonti

Capitoli di libri sul tema "Metabolism, 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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
2

Holzman, Robert S., Thomas J. Mancuso, Navil F. Sethna e 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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
3

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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
4

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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
5

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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
6

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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
7

Goetsch, Allison L., Dana Kimelman e 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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
8

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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
9

Burlina, Alberto, Andrea Celato e 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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
10

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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri

Atti di convegni sul tema "Metabolism, 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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
2

Siddiqui, Duygu Özbek, e Leyla Tümer. "200 Do doctors know what they do not know about inborn errors of metabolism". In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference, Glasgow, 23–25 May 2023. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2023. http://dx.doi.org/10.1136/archdischild-2023-rcpch.275.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
3

James, S., A. Sheerin, L. Grabowsky, S. Senanayake, Z. Abidin, J. O’Byrne, E. Treacy e 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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
4

Rosso, Mattia, e Federico Rodriguez-Porcel. "Neuropsychiatric Presentations in Late-onset Inborn Errors of the Metabolism: A Systematic Review of the Literature (P2-12.008)". In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202742.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
5

Engel, Sarah, Salman Rashid, Ali Beshri e Amitha Ananth. "Cobalamin C Deficiency, an Inborn Error of Metabolism presenting with Subacute Neuropsychiatric Symptoms (P9-4.001)". In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202441.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
6

de Melo, Laura Defensor Ribeiro, Saul Alquez Montano, Maria Avanise Yumi Minami e Ana Paula Andrade Hamad. "Case series on type I gangliosidosis at a reference service for inborn errors of metabolism: from diagnostic strategies to therapeutic perspectives". In SBN Conference 2022. Thieme Revinter Publicações Ltda., 2023. http://dx.doi.org/10.1055/s-0043-1774551.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
7

Kutscherjawy, E., P. Hacke, K. Pauli, S. König, A. Tannous e 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.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
8

Stenzier, W., H. Ostermann, K. Ullrich e 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.

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
9

Santhanakrishnan, Arvind, Trent Nestle, Brian Moore, Ajit P. Yoganathan e 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.

Testo completo
Abstract (sommario):
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.
Gli stili APA, Harvard, Vancouver, ISO e altri
10

Batani, V., E. Benetti, J. Mahajne, F. Segala, C. Minici, M. Lanzillotta, D. Colavito e E. Della Torre. "POS0376 HUMAN INBORN ERRORS OF IMMUNITY IN IgG4 RELATED DISEASE". In EULAR 2024 European Congress of Rheumatology, 12-15 June. Vienna, Austria. BMJ Publishing Group Ltd and European League Against Rheumatism, 2024. http://dx.doi.org/10.1136/annrheumdis-2024-eular.3221.

Testo completo
Gli stili APA, Harvard, Vancouver, ISO e altri
Ti possono interessare anche gli elenchi estesi di opere sul tema "Metabolism, Inborn errors of":
Articoli di riviste Tesi Libri
Offriamo sconti su tutti i piani premium per gli autori le cui opere sono incluse in raccolte letterarie tematiche. Contattaci per ottenere un codice promozionale unico!

Vai alla bibliografia