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

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Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 1 marzo 2023

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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.

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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.

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.

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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.

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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.

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.

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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.

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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.

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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.

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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.

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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.

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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.

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11

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

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12

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

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13

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

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14

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

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15

Vernon, Hilary J. "Inborn Errors of Metabolism". JAMA Pediatrics 169, n. 8 (1 agosto 2015): 778. http://dx.doi.org/10.1001/jamapediatrics.2015.0754.

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16

Almannai, Mohammed, Majid Alfadhel e Ayman W. El-Hattab. "Carnitine Inborn Errors of Metabolism". Molecules 24, n. 18 (6 settembre 2019): 3251. http://dx.doi.org/10.3390/molecules24183251.

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Abstract (sommario):

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.

17

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

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18

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

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19

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

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20

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

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21

Worwood, M. "Inborn errors of metabolism: iron". British Medical Bulletin 55, n. 3 (1 gennaio 1999): 556–67. http://dx.doi.org/10.1258/0007142991902628.

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22

Hommes, F. A. "Inborn errors of fructose metabolism". American Journal of Clinical Nutrition 58, n. 5 (1 novembre 1993): 788S—795S. http://dx.doi.org/10.1093/ajcn/58.5.788s.

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23

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

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24

Mitsubuchi, Hiroshi, Kimitoshi Nakamura, Shiro Matsumoto e Fumio Endo. "Inborn Errors of Proline Metabolism". Journal of Nutrition 138, n. 10 (1 ottobre 2008): 2016S—2020S. http://dx.doi.org/10.1093/jn/138.10.2016s.

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25

Leonard, J. V. "Teratogenic inborn errors of metabolism." Postgraduate Medical Journal 62, n. 724 (1 febbraio 1986): 125–29. http://dx.doi.org/10.1136/pgmj.62.724.125.

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26

Nyhan, W. L. "Inborn errors of biotin metabolism". Archives of Dermatology 123, n. 12 (1 dicembre 1987): 1696–98. http://dx.doi.org/10.1001/archderm.123.12.1696.

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27

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

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28

Nyhan, William L. "Inborn Errors of Biotin Metabolism". Archives of Dermatology 123, n. 12 (1 dicembre 1987): 1696. http://dx.doi.org/10.1001/archderm.1987.01660360146027.

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29

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

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30

Lodh, Moushumi, e Joshi Anand Kerketta. "Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby". Asian Journal of Medical Sciences 3, n. 1 (18 febbraio 2013): 17–20. http://dx.doi.org/10.3126/ajms.v3i1.4801.

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Abstract (sommario):

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

31

MP, Narayanan. "Inborn Errors of Metabolism: Indian Scenario". Acta Scientific Paediatrics 2, n. 11 (22 ottobre 2019): 50–52. http://dx.doi.org/10.31080/aspe.2019.02.0169.

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32

Rice, G. M., e R. D. Steiner. "Inborn Errors of Metabolism (Metabolic Disorders)". Pediatrics in Review 37, n. 1 (1 gennaio 2016): 3–17. http://dx.doi.org/10.1542/pir.2014-0122.

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33

Belousova, E. D. "EPILEPSY IN INBORN ERRORS OF METABOLISM". Epilepsia and paroxyzmal conditions 8, n. 1 (1 gennaio 2016): 55–61. http://dx.doi.org/10.17749/2077-8333.2016.8.1.055-061.

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34

RAHMAN, SHAMIMA, EMMA J. FOOTITT, SOPHIA VARADKAR e PETER T. CLAYTON. "Inborn errors of metabolism causing epilepsy". Developmental Medicine & Child Neurology 55, n. 1 (24 settembre 2012): 23–36. http://dx.doi.org/10.1111/j.1469-8749.2012.04406.x.

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35

Fukao, Toshiyuki, e Kimitoshi Nakamura. "Advances in inborn errors of metabolism". Journal of Human Genetics 64, n. 2 (25 gennaio 2019): 65. http://dx.doi.org/10.1038/s10038-018-0535-7.

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36

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

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37

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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38

Jalan, Anil B. "Treatment of inborn errors of metabolism". Molecular Cytogenetics 7, Suppl 1 (2014): I42. http://dx.doi.org/10.1186/1755-8166-7-s1-i42.

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39

Walter, J. H. "Inborn errors of metabolism and pregnancy". Journal of Inherited Metabolic Disease 23, n. 3 (maggio 2000): 229–36. http://dx.doi.org/10.1023/a:1005679928521.

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40

Velázquez, Antonio, Marcela Vela-Amieva, Isabel Cicerón-Arellano, Isabel Ibarra-González, Martha Elva Pérez-Andrade, Zazil Olivares-Sandoval e Gerardo Jiménez-Sánchez. "Diagnosis of Inborn Errors of Metabolism". Archives of Medical Research 31, n. 2 (marzo 2000): 145–50. http://dx.doi.org/10.1016/s0188-4409(00)00053-9.

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41

Schillaci, Lori-Anne P., Suzanne D. DeBrosse e Shawn E. McCandless. "Inborn Errors of Metabolism with Acidosis". Pediatric Clinics of North America 65, n. 2 (aprile 2018): 209–30. http://dx.doi.org/10.1016/j.pcl.2017.11.003.

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42

Summar, Marshall L., e Nicholas Ah Mew. "Inborn Errors of Metabolism with Hyperammonemia". Pediatric Clinics of North America 65, n. 2 (aprile 2018): 231–46. http://dx.doi.org/10.1016/j.pcl.2017.11.004.

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43

Weinstein, David A., Ulrike Steuerwald, Carolina F. M. De Souza e Terry G. J. Derks. "Inborn Errors of Metabolism with Hypoglycemia". Pediatric Clinics of North America 65, n. 2 (aprile 2018): 247–65. http://dx.doi.org/10.1016/j.pcl.2017.11.005.

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44

El-Gharbawy, Areeg, e Jerry Vockley. "Inborn Errors of Metabolism with Myopathy". Pediatric Clinics of North America 65, n. 2 (aprile 2018): 317–35. http://dx.doi.org/10.1016/j.pcl.2017.11.006.

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45

Almannai, Mohammed, e Ayman W. El-Hattab. "Inborn Errors of Metabolism with Seizures". Pediatric Clinics of North America 65, n. 2 (aprile 2018): 279–99. http://dx.doi.org/10.1016/j.pcl.2017.11.007.

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46

Demirbas, Didem, William J. Brucker e Gerard T. Berry. "Inborn Errors of Metabolism with Hepatopathy". Pediatric Clinics of North America 65, n. 2 (aprile 2018): 337–52. http://dx.doi.org/10.1016/j.pcl.2017.11.008.

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47

Dulac, O. "Epilepsy in inborn errors of metabolism". European Journal of Paediatric Neurology 12 (maggio 2008): S1. http://dx.doi.org/10.1016/s1090-3798(08)70006-0.

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48

Pollitt, Rodney J., e Mark J. Sharrard. "Treating rare inborn errors of metabolism". Lancet 364, n. 9452 (dicembre 2004): 2158–60. http://dx.doi.org/10.1016/s0140-6736(04)17606-x.

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49

Mitchell, Beverly S. "C01 Inborn errors of purine metabolism". Nutrition Clinique et Métabolisme 6, n. 4 (gennaio 1992): 241. http://dx.doi.org/10.1016/s0985-0562(05)80376-0.

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50

Poll-Thé, B. T. "Inborn errors of metabolism and seizures". Clinical Neurology and Neurosurgery 93, n. 4 (gennaio 1991): 348. http://dx.doi.org/10.1016/0303-8467(91)90105-x.

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