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

Year Number of Results
1963 14
1964 10
1965 11
1966 21
1967 27
1968 32
1969 31
1970 28
1971 35
1972 19
1973 32
1974 29
1975 32
1976 37
1977 13
1978 20
1979 16
1980 19
1981 22
1982 26
1983 31
1984 19
1985 24
1986 26
1987 34
1988 35
1989 39
1990 36
1991 46
1992 61
1993 68
1994 65
1995 43
1996 50
1997 55
1998 154
1999 111
2000 138
2001 150
2002 134
2003 141
2004 147
2005 152
2006 122
2007 130
2008 119
2009 122
2010 144
2011 147
2012 146
2013 165
2014 117
2015 129
2016 128
2017 142
2018 114
2019 141
2020 129
2021 121
2022 98
2023 113
2024 51

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4,293 results

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Page 1
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). ...
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propioni …
New insights into the pathophysiology of methylmalonic acidemia.
Head PE, Meier JL, Venditti CP. Head PE, et al. J Inherit Metab Dis. 2023 May;46(3):436-449. doi: 10.1002/jimd.12617. J Inherit Metab Dis. 2023. PMID: 37078237 Free PMC article. Review.
Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbations and multiorgan pathology. ...While earlier studies have focused on the potential direct toxicity of metabolites such as methylmalonic and …
Methylmalonic acidemia (MMA) is a severe inborn error of metabolism that is characterized by pleiotropic metabolic perturbatio …
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.
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. ...IEMs have been classified into different categories and one class of I
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the sp
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T. Wassenberg T, et al. Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Orphanet J Rare Dis. 2017. PMID: 28100251 Free PMC article. Review.
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. ...
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that lead …
Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases.
Kölker S. Kölker S. J Inherit Metab Dis. 2018 Nov;41(6):1055-1063. doi: 10.1007/s10545-018-0201-4. Epub 2018 Jun 4. J Inherit Metab Dis. 2018. PMID: 29869166 Review.
Since biosynthesis of L-glutamate and gamma-aminobutyric acid (GABA) requires 2-oxoglutarate while 3-phosphoglycerate is the precursor of L-glycine and D-serine, evolutionary selection of these amino acid neurotransmitters might have been driven by their capa …
Since biosynthesis of L-glutamate and gamma-aminobutyric acid (GABA) requires 2-oxoglutarate while 3-phosphoglycerate is the precurso …
Eladocagene Exuparvovec: First Approval.
Keam SJ. Keam SJ. Drugs. 2022 Sep;82(13):1427-1432. doi: 10.1007/s40265-022-01775-3. Drugs. 2022. PMID: 36103022 Review.
Eladocagene exuparvovec (Upstaza) is a gene therapy developed by PTC Therapeutics for the treatment of human aromatic L-amino acid decarboxylase (AADC) deficiency. Eladocagene exuparvovec comprises an adeno-associated virus vector that delivers the dopa decarboxylas …
Eladocagene exuparvovec (Upstaza) is a gene therapy developed by PTC Therapeutics for the treatment of human aromatic L-amino acid
Burden and severity of disease of aromatic L-amino acid decarboxylase deficiency: a systematic literature review.
Buesch K, Zhang R, Szczepańska K, Veličković V, Turner L, Despotović M, Đorđević B, Russell A. Buesch K, et al. Curr Med Res Opin. 2022 Nov;38(11):1871-1882. doi: 10.1080/03007995.2022.2072090. Epub 2022 May 18. Curr Med Res Opin. 2022. PMID: 35485958 Review.
OBJECTIVE: The objective was to investigate the severity of aromatic L-amino acid decarboxylase deficiency (AADCd) as reported in the published literature and to collate evidence of the clinical manifestations of AADCd, and the impact of the disease on patients, car …
OBJECTIVE: The objective was to investigate the severity of aromatic L-amino acid decarboxylase deficiency (AADCd) as reported …
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
As found in our review, measurement of homocysteine in plasma, amino acids in plasma/urine, and sulfite in fresh urine supports the diagnosis of ISOD. Analysis of uric acid (plasma) and oxypurines (urine) is useful to rule out MoCD. ...
As found in our review, measurement of homocysteine in plasma, amino acids in plasma/urine, and sulfite in fresh urine supports the d …
Organic acidemias.
Mahoney MJ. Mahoney MJ. Clin Perinatol. 1976 Mar;3(1):61-78. Clin Perinatol. 1976. PMID: 8230 Review.
Diagnosis depends on examination of urine, and sometimes blood, by gas-liquid chromatography to measure concentrations of organic acids and organic acid derivatives. Prognosis in many cases is excellent if diagnosis is made promptly and the metabolic acidosis can be revers …
Diagnosis depends on examination of urine, and sometimes blood, by gas-liquid chromatography to measure concentrations of organic acids and …
Gene therapy for neurotransmitter-related disorders.
Chu WS, Ng J, Waddington SN, Kurian MA. Chu WS, et al. J Inherit Metab Dis. 2024 Jan;47(1):176-191. doi: 10.1002/jimd.12697. J Inherit Metab Dis. 2024. PMID: 38221762 Free PMC article. Review.
Inborn errors of neurotransmitter (NT) metabolism are a group of rare, heterogenous diseases with predominant neurological features, such as movement disorders, autonomic dysfunction, and developmental delay. ...Gene therapies have been developed and translat
Inborn errors of neurotransmitter (NT) metabolism are a group of rare, heterogenous diseases with predominant neurologi
4,293 results