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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 4
1965 1
1966 3
1967 2
1968 5
1969 1
1970 4
1971 3
1972 2
1973 5
1974 2
1975 3
1976 3
1977 1
1978 1
1980 1
1981 1
1982 1
1983 4
1985 2
1986 1
1988 1
1989 4
1991 2
1992 2
1993 5
1994 3
1995 3
1996 2
1997 4
1998 7
1999 3
2000 2
2001 2
2002 7
2004 1
2005 8
2006 2
2007 2
2009 3
2010 4
2011 4
2012 5
2013 7
2014 7
2015 1
2016 1
2017 6
2018 4
2019 2
2020 4
2021 4
2022 5
2023 3

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157 results

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Page 1
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type …
Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urin …
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH. Van Calcar SC, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):23-37. doi: 10.1016/j.ymgme.2020.10.001. Epub 2020 Oct 6. Mol Genet Metab. 2020. PMID: 33093005 Free article. Review.
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guidelines focusing on the diet treatment for inherited metabolic disorders and follows previous publication of guidelines for maple s …
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guid …
Ataxia.
Winchester S, Singh PK, Mikati MA. Winchester S, et al. Handb Clin Neurol. 2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X. Handb Clin Neurol. 2013. PMID: 23622331 Review.
., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainstem encephalitis, occult neuroblastoma, Miller Fisher syndrome, conversion reaction, multiple sclerosis, epileptic pseudoataxia, vasculitis (e …
., antiepileptics, lead, alcohol), postinfectious cerebellitis, hemorrhage, ischemic stroke, tumor (posterior fossa or cerebellum), brainste …
Neonatal maple syrup urine disease case report and literature review.
Liu Q, Li F, Zhou J, Liu X, Peng J, Gong L. Liu Q, et al. Medicine (Baltimore). 2022 Dec 16;101(50):e32174. doi: 10.1097/MD.0000000000032174. Medicine (Baltimore). 2022. PMID: 36550798 Free PMC article. Review.
RATIONALE: The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous system symptoms and intellectual disability. ...MSUD is rarely reported, while cervical spinal cord involvement is extremely rare. DIAGNOSES: B …
RATIONALE: The main clinical symptoms of maple syrup urine disease (MSUD) are dehydration, acidosis, nervous sys …
Pathophysiology of maple syrup urine disease: Focus on the neurotoxic role of the accumulated branched-chain amino acids and branched-chain α-keto acids.
Amaral AU, Wajner M. Amaral AU, et al. Neurochem Int. 2022 Jul;157:105360. doi: 10.1016/j.neuint.2022.105360. Epub 2022 May 13. Neurochem Int. 2022. PMID: 35577033 Review.
Maple syrup urine disease (MSUD) is an autosomal recessive neurometabolic disorder caused by severe deficiency of branched-chain alpha-keto acid dehydrogenase complex activity, which catalyzes the oxidative decarboxylation of the branched-chain alpha-k …
Maple syrup urine disease (MSUD) is an autosomal recessive neurometabolic disorder caused by severe deficiency o …
Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
Deon M, Guerreiro G, Girardi J, Ribas G, Vargas CR. Deon M, et al. Int J Dev Neurosci. 2023 Oct;83(6):489-504. doi: 10.1002/jdn.10283. Epub 2023 Jun 20. Int J Dev Neurosci. 2023. PMID: 37340513 Review.
Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain alpha-ketoacid dehydrogenase (BCKD) complex, promoting the accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine, as well a …
Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain alpha-ketoacid …
Current update in domino liver transplantation.
Marques HP, Barros I, Li J, Murad SD, di Benedetto F. Marques HP, et al. Int J Surg. 2020 Oct;82S:163-168. doi: 10.1016/j.ijsu.2020.03.017. Epub 2020 Mar 31. Int J Surg. 2020. PMID: 32244002 Free article. Review.
AMINOACIDURIA.
EFRON ML. EFRON ML. N Engl J Med. 1965 May 20;272:1058-67 CONTD. doi: 10.1056/NEJM196505202722006. N Engl J Med. 1965. PMID: 14281543 Review. No abstract available.
3.19 Inborn Errors of Metabolism.
Maier EM, Dokoupil K. Maier EM, et al. World Rev Nutr Diet. 2022;124:351-361. doi: 10.1159/000516735. Epub 2022 Mar 3. World Rev Nutr Diet. 2022. PMID: 35240634 Review. No abstract available.
Branched-chain organic acidurias.
Ogier de Baulny H, Saudubray JM. Ogier de Baulny H, et al. Semin Neonatol. 2002 Feb;7(1):65-74. doi: 10.1053/siny.2001.0087. Semin Neonatol. 2002. PMID: 12069539 Review.
Branched chain organic acidurias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of branched chain amino acids (leucine, isoleucine, valine). Maple syrup urine disease (MSUD), isovaleric acidaemia ( …
Branched chain organic acidurias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of br …
157 results