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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 128
2021 120
2022 98
2023 115
2024 62

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4,303 results

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Page 1
Mechanistic basis of hypermethioninemia.
Schweinberger BM, Wyse AT. Schweinberger BM, et al. Amino Acids. 2016 Nov;48(11):2479-2489. doi: 10.1007/s00726-016-2302-4. Epub 2016 Jul 27. Amino Acids. 2016. PMID: 27465642 Review.
It is possible to infer that oxidative damage is one of the most important mechanisms responsible for methionine toxicity, since different studies showed that this amino acid induces oxidative stress in brain and liver tissues. Besides, reactive oxygen species may m …
It is possible to infer that oxidative damage is one of the most important mechanisms responsible for methionine toxicity, since different s …
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Mol Genet Metab. 2019. PMID: 30952622 Review.
Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessive disorder characterized by sharply reduced synthesis of dopamine as well as other neurotransmitters. ...
Aromatic-l-amino acid decarboxylase (AADC) deficiency is an ultra-rare inherited autosomal recessive disorder character …
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
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 (IVA), propionic acidu …
Branched chain organic acidurias are a group of disorders that result from an abnormality of specific enzymes involving the catabolism of br …
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 …
Phenotype of GABA-transaminase deficiency.
Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Koenig MK, et al. Neurology. 2017 May 16;88(20):1919-1924. doi: 10.1212/WNL.0000000000003936. Epub 2017 Apr 14. Neurology. 2017. PMID: 28411234 Free PMC article. Review.
OBJECTIVE: We report a case series of 10 patients with gamma-aminobutyric acid (GABA)-transaminase deficiency including a novel therapeutic trial and an expanded phenotype. ...
OBJECTIVE: We report a case series of 10 patients with gamma-aminobutyric acid (GABA)-transaminase deficiency including a novel thera …
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 …
Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.
Vogel KR, Ainslie GR, Walters DC, McConnell A, Dhamne SC, Rotenberg A, Roullet JB, Gibson KM. Vogel KR, et al. J Inherit Metab Dis. 2018 Jul;41(4):699-708. doi: 10.1007/s10545-018-0153-8. Epub 2018 Feb 19. J Inherit Metab Dis. 2018. PMID: 29460030 Free PMC article. Review.
We present an update to the status of research on succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD), a rare disorder of GABA metabolism. This is an unusual disorder featuring the accumulation of both GABA and its neuromodulatory analog, gamma-hy …
We present an update to the status of research on succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD), a rare disorder of …
4,303 results