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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 …
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 …
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 …
Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.
Xu J, Jakher Y, Ahrens-Nicklas RC. Xu J, et al. Int J Mol Sci. 2020 Oct 11;21(20):7490. doi: 10.3390/ijms21207490. Int J Mol Sci. 2020. PMID: 33050626 Free PMC article. Review.
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched-chain alpha-ketoacid dehydrogenase complex (BCKDC), which catalyzes the irreversible catabolism of branched-chain amino acids (BCAAs). ...
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched …
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.
Successful pregnancy in maple syrup urine disease: a case report and review of the literature.
Grünert SC, Rosenbaum-Fabian S, Schumann A, Schwab KO, Mingirulli N, Spiekerkoetter U. Grünert SC, et al. Nutr J. 2018 May 12;17(1):51. doi: 10.1186/s12937-018-0357-7. Nutr J. 2018. PMID: 29753318 Free PMC article. Review.
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid metabolism. ...
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive disorder of branched-chain amino acid met …
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.
157 results