Artykuły w czasopismach: „Inborn errors of”

1

BURTON, BARBARA K. "Inborn Errors of Metabolism". Pediatrics 80, nr 4 (1.10.1987): 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, nr 4 (1.04.2009): e22-e28. http://dx.doi.org/10.1542/pir.30.4.e22.

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WISWELL, THOMAS E., i MARTIN E. WEISSE. "Inborn Errors of Metabolism". Pediatrics 80, nr 4 (1.10.1987): 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, nr 4 (1.04.2009): 131–38. http://dx.doi.org/10.1542/pir.30.4.131.

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Kiess, Wieland, Anna Kirstein i Skadi Beblo. "Inborn errors of metabolism". Journal of Pediatric Endocrinology and Metabolism 33, nr 1 (28.01.2020): 1–3. http://dx.doi.org/10.1515/jpem-2019-0582.

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

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Waber, Lewis. "Inborn Errors of Metabolism". Pediatric Annals 19, nr 2 (1.02.1990): 105–18. http://dx.doi.org/10.3928/0090-4481-19900201-08.

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

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

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

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Moutsopoulos, N. M., M. S. Lionakis i G. Hajishengallis. "Inborn Errors in Immunity". Journal of Dental Research 94, nr 6 (21.04.2015): 753–58. http://dx.doi.org/10.1177/0022034515583533.

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12

Mitchell, G. A., S. P. Wang, L. Ashmarina, M. F. Robert, G. Bouchard, N. Laurin, S. Kassovska-Bratinova i Y. Boukaftane. "Inborn errors of ketogenesis". Biochemical Society Transactions 26, nr 2 (1.05.1998): 136–40. http://dx.doi.org/10.1042/bst0260136.

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El-Hattab, Ayman W., i V. Reid Sutton. "Inborn Errors of Metabolism". Pediatric Clinics of North America 65, nr 2 (kwiecień 2018): i. http://dx.doi.org/10.1016/s0031-3955(18)30012-9.

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New, Maria I. "Inborn Errors of Steroidogenesis". Steroids 63, nr 5-6 (maj 1998): 238–42. http://dx.doi.org/10.1016/s0039-128x(98)00028-2.

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Saudubray, J. M. "Inborn errors of metabolism". Seminars in Neonatology 7, nr 1 (luty 2002): 1. http://dx.doi.org/10.1053/siny.2001.0082.

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Sawley, Linda. "Inborn errors of metabolism". Paediatric Nursing 10, nr 5 (czerwiec 1998): 25–27. http://dx.doi.org/10.7748/paed.10.5.25.s21.

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El-Hattab, Ayman W. "Inborn Errors of Metabolism". Clinics in Perinatology 42, nr 2 (czerwiec 2015): 413–39. http://dx.doi.org/10.1016/j.clp.2015.02.010.

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Vernon, Hilary J. "Inborn Errors of Metabolism". JAMA Pediatrics 169, nr 8 (1.08.2015): 778. http://dx.doi.org/10.1001/jamapediatrics.2015.0754.

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Mizoguchi, Yoko, i Satoshi Okada. "Inborn errors of STAT1 immunity". Current Opinion in Immunology 72 (październik 2021): 59–64. http://dx.doi.org/10.1016/j.coi.2021.02.009.

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20

Almannai, Mohammed, Majid Alfadhel i Ayman W. El-Hattab. "Carnitine Inborn Errors of Metabolism". Molecules 24, nr 18 (6.09.2019): 3251. http://dx.doi.org/10.3390/molecules24183251.

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Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis. The precursors for carnitine biosynthesis are lysine and methionine. The biosynthetic pathway involves four enzymes: 6-N-trimethyllysine dioxygenase (TMLD), 3-hydroxy-6-N-trimethyllysine aldolase (HTMLA), 4-N-trimethylaminobutyraldehyde dehydrogenase (TMABADH), and γ-butyrobetaine dioxygenase (BBD). OCTN2 (organic cation/carnitine transporter novel type 2) transports carnitine into the cells. One of the major functions of carnitine is shuttling long-chain fatty acids across the mitochondrial membrane from the cytosol into the mitochondrial matrix for β-oxidation. This transport is achieved by mitochondrial carnitine–acylcarnitine cycle, which consists of three enzymes: carnitine palmitoyltransferase I (CPT I), carnitine-acylcarnitine translocase (CACT), and carnitine palmitoyltransferase II (CPT II). Carnitine inborn errors of metabolism could result from defects in carnitine biosynthesis, carnitine transport, or mitochondrial carnitine–acylcarnitine cycle. The presentation of these disorders is variable but common findings include hypoketotic hypoglycemia, cardio(myopathy), and liver disease. In this review, the metabolism and homeostasis of carnitine are discussed. Then we present details of different inborn errors of carnitine metabolism, including clinical presentation, diagnosis, and treatment options. At the end, we discuss some of the causes of secondary carnitine deficiency.

21

Lennard, Martin S., Geoffrey T. Tucker i H. Frank Woods. "Inborn ???Errors??? of Drug Metabolism". Clinical Pharmacokinetics 19, nr 4 (październik 1990): 257–63. http://dx.doi.org/10.2165/00003088-199019040-00001.

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22

Surtees, Robert, Philippa Mills i Peter Clayton. "Inborn errors affecting vitamin B6metabolism". Future Neurology 1, nr 5 (wrzesień 2006): 615–20. http://dx.doi.org/10.2217/14796708.1.5.615.

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MacFarlane, A. W. "Inborn errors of lipid metabolism". Clinical and Experimental Dermatology 14, nr 4 (lipiec 1989): 334. http://dx.doi.org/10.1111/j.1365-2230.1989.tb02004.x.

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Blau, N. "Inborn Errors of Pterin Metabolism". Annual Review of Nutrition 8, nr 1 (lipiec 1988): 185–209. http://dx.doi.org/10.1146/annurev.nu.08.070188.001153.

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25

Van den Berghe, Georges. "Inborn Errors of Fructose Metabolism". Annual Review of Nutrition 14, nr 1 (lipiec 1994): 41–58. http://dx.doi.org/10.1146/annurev.nu.14.070194.000353.

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Worwood, M. "Inborn errors of metabolism: iron". British Medical Bulletin 55, nr 3 (1.01.1999): 556–67. http://dx.doi.org/10.1258/0007142991902628.

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Hommes, F. A. "Inborn errors of fructose metabolism". American Journal of Clinical Nutrition 58, nr 5 (1.11.1993): 788S—795S. http://dx.doi.org/10.1093/ajcn/58.5.788s.

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Surtees, R. "Inborn errors of neurotransmitter receptors". Journal of Inherited Metabolic Disease 22, nr 4 (czerwiec 1999): 374–80. http://dx.doi.org/10.1023/a:1005591820414.

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29

New, Maria I. "Inborn errors of adrenal steroidogenesis". Molecular and Cellular Endocrinology 211, nr 1-2 (grudzień 2003): 75–84. http://dx.doi.org/10.1016/j.mce.2003.09.013.

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Saudubray, Jean-Marie, i Àngels Garcia-Cazorla. "Inborn Errors of Metabolism Overview". Pediatric Clinics of North America 65, nr 2 (kwiecień 2018): 179–208. http://dx.doi.org/10.1016/j.pcl.2017.11.002.

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31

Mitsubuchi, Hiroshi, Kimitoshi Nakamura, Shiro Matsumoto i Fumio Endo. "Inborn Errors of Proline Metabolism". Journal of Nutrition 138, nr 10 (1.10.2008): 2016S—2020S. http://dx.doi.org/10.1093/jn/138.10.2016s.

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32

Leonard, J. V. "Teratogenic inborn errors of metabolism." Postgraduate Medical Journal 62, nr 724 (1.02.1986): 125–29. http://dx.doi.org/10.1136/pgmj.62.724.125.

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33

Nyhan, W. L. "Inborn errors of biotin metabolism". Archives of Dermatology 123, nr 12 (1.12.1987): 1696–98. http://dx.doi.org/10.1001/archderm.123.12.1696.

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34

Gibson, Kenneth M., William L. Nyhan i Jaak Jaeken. "Inborn errors of GABA metabolism". BioEssays 4, nr 1 (styczeń 1986): 24–27. http://dx.doi.org/10.1002/bies.950040107.

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35

Batshaw, Mark L. "Inborn errors of urea synthesis". Annals of Neurology 35, nr 2 (luty 1994): 133–41. http://dx.doi.org/10.1002/ana.410350204.

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Nyhan, William L. "Inborn Errors of Biotin Metabolism". Archives of Dermatology 123, nr 12 (1.12.1987): 1696. http://dx.doi.org/10.1001/archderm.1987.01660360146027.

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37

Mayatepek, Ertan, Björn Hoffmann i Thomas Meissner. "Inborn errors of carbohydrate metabolism". Best Practice & Research Clinical Gastroenterology 24, nr 5 (październik 2010): 607–18. http://dx.doi.org/10.1016/j.bpg.2010.07.012.

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38

Veiga‐da‐Cunha, Maria, Emile Van Schaftingen i Guido T. Bommer. "Inborn errors of metabolite repair". Journal of Inherited Metabolic Disease 43, nr 1 (29.12.2019): 14–24. http://dx.doi.org/10.1002/jimd.12187.

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39

Lodh, Moushumi, i Joshi Anand Kerketta. "Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby". Asian Journal of Medical Sciences 3, nr 1 (18.02.2013): 17–20. http://dx.doi.org/10.3126/ajms.v3i1.4801.

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Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of citrullinemia, glycinemia with hyperammonaemia and seizures in a 4-dayold previously asymptomatic baby, with a brief review of the literature. DOI: http://dx.doi.org/10.3126/ajms.v3i1.4801 Asian Journal of Medical Sciences 3(2012) 17-20

40

Tiri, Alessandra, Riccardo Masetti, Francesca Conti, Anna Tignanelli, Elena Turrini, Patrizia Bertolini, Susanna Esposito i Andrea Pession. "Inborn Errors of Immunity and Cancer". Biology 10, nr 4 (9.04.2021): 313. http://dx.doi.org/10.3390/biology10040313.

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Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterized by a defect in the function of at least one, and often more, components of the immune system. The aim of this narrative review is to discuss the epidemiology, the pathogenesis and the correct management of tumours in patients with IEI. PubMed was used to search for all of the studies published over the last 20 years using the keywords: “inborn errors of immunity” or “primary immunodeficiency” and “cancer” or “tumour” or “malignancy”. Literature analysis showed that the overall risk for cancer in children with IEI ranges from 4 to 25%. Several factors, namely, age of the patient, viral infection status and IEI type can influence the development of different cancer types. The knowledge of a specific tumour risk in the presence of IEI highlights the importance of a synergistic effort by immunologists and oncologists in tracking down the potential development of cancer in known IEI patients, as well as an underlying IEI in patients with newly diagnosed cancers. In the current genomic era, the creation of an international registry of IEI cases integrated with malignancies occurrence information is fundamental to optimizing the diagnostic process and to evaluating the outcomes of new therapeutic options, with the hope to obtain a better prognosis for these patients.

41

MP, Narayanan. "Inborn Errors of Metabolism: Indian Scenario". Acta Scientific Paediatrics 2, nr 11 (22.10.2019): 50–52. http://dx.doi.org/10.31080/aspe.2019.02.0169.

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42

Rice, G. M., i R. D. Steiner. "Inborn Errors of Metabolism (Metabolic Disorders)". Pediatrics in Review 37, nr 1 (1.01.2016): 3–17. http://dx.doi.org/10.1542/pir.2014-0122.

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43

Belousova, E. D. "EPILEPSY IN INBORN ERRORS OF METABOLISM". Epilepsia and paroxyzmal conditions 8, nr 1 (1.01.2016): 55–61. http://dx.doi.org/10.17749/2077-8333.2016.8.1.055-061.

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44

Seth, Neha, Karen S. Tuano i Javier Chinen. "Inborn errors of immunity: Recent progress". Journal of Allergy and Clinical Immunology 148, nr 6 (grudzień 2021): 1442–50. http://dx.doi.org/10.1016/j.jaci.2021.10.010.

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45

Yamashita, Motoi, i Tomohiro Morio. "Inborn errors of IKAROS and AIOLOS". Current Opinion in Immunology 72 (październik 2021): 239–48. http://dx.doi.org/10.1016/j.coi.2021.06.010.

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46

RAHMAN, SHAMIMA, EMMA J. FOOTITT, SOPHIA VARADKAR i PETER T. CLAYTON. "Inborn errors of metabolism causing epilepsy". Developmental Medicine & Child Neurology 55, nr 1 (24.09.2012): 23–36. http://dx.doi.org/10.1111/j.1469-8749.2012.04406.x.

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47

Casanova, Jean-Laurent, i Laurent Abel. "Inborn errors of immunity to infection". Journal of Experimental Medicine 202, nr 2 (18.07.2005): 197–201. http://dx.doi.org/10.1084/jem.20050854.

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The immune system's function is to protect against microorganisms, but infection is nonetheless the most frequent cause of death in human history. Until the last century, life expectancy was only ∼25 years. Recent increases in human life span primarily reflect the development of hygiene, vaccines, and anti-infectious drugs, rather than the adjustment of our immune system to coevolving microbes by natural selection. We argue here that most individuals retain a natural vulnerability to infectious diseases, reflecting a great diversity of inborn errors of immunity.

48

Fukao, Toshiyuki, i Kimitoshi Nakamura. "Advances in inborn errors of metabolism". Journal of Human Genetics 64, nr 2 (25.01.2019): 65. http://dx.doi.org/10.1038/s10038-018-0535-7.

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49

Kwon, Jennifer M. "Testing for Inborn Errors of Metabolism". CONTINUUM: Lifelong Learning in Neurology 24, nr 1 (luty 2018): 37–56. http://dx.doi.org/10.1212/con.0000000000000563.

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50

Kimonis, Virginia. "Dysmorphology of inborn errors of metabolism". Molecular Cytogenetics 7, Suppl 1 (2014): I39. http://dx.doi.org/10.1186/1755-8166-7-s1-i39.

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