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Year Number of Results
1985 1
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1993 7
1994 5
1995 5
1996 1
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1999 3
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2002 6
2003 3
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142 results

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Page 1
Hyperammonemia in Inherited Metabolic Diseases.
Ribas GS, Lopes FF, Deon M, Vargas CR. Ribas GS, et al. Cell Mol Neurobiol. 2022 Nov;42(8):2593-2610. doi: 10.1007/s10571-021-01156-6. Epub 2021 Oct 19. Cell Mol Neurobiol. 2022. PMID: 34665389 Review.
These diseases are mainly represented by the congenital defects of urea cycle, classical organic acidurias, and the defects of mitochondrial fatty acids oxidation, with hyperammonemia being more severe and frequent in the first two groups mentioned. ...In this revie …
These diseases are mainly represented by the congenital defects of urea cycle, classical organic acidurias, and the defects of …
"Classical organic acidurias": diagnosis and pathogenesis.
Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M. Villani GR, et al. Clin Exp Med. 2017 Aug;17(3):305-323. doi: 10.1007/s10238-016-0435-0. Epub 2016 Sep 9. Clin Exp Med. 2017. PMID: 27613073 Review.
Collectively, their incidence approximates 1 out of 3000 live births. Among these disorders, methyl malonic aciduria, propionic aciduria, maple syrup urine disease and isovaleric aciduria are sometimes referred to as classical organic acidurias. …
Collectively, their incidence approximates 1 out of 3000 live births. Among these disorders, methyl malonic aciduria, propionic ac
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431622 Free PMC article. Review.
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. ...This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spect …
Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. ...This defect gives rise to e …
The complex machinery of human cobalamin metabolism.
McCorvie TJ, Ferreira D, Yue WW, Froese DS. McCorvie TJ, et al. J Inherit Metab Dis. 2023 May;46(3):406-420. doi: 10.1002/jimd.12593. Epub 2023 Feb 8. J Inherit Metab Dis. 2023. PMID: 36680553 Free article. Review.
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), propioni …
Branched chain organic acidurias are a group of disorders that result from an abnormality of specific enzymes involving the ca …
3-Methylglutaric acid in energy metabolism.
Jones DE, Perez L, Ryan RO. Jones DE, et al. Clin Chim Acta. 2020 Mar;502:233-239. doi: 10.1016/j.cca.2019.11.006. Epub 2019 Nov 12. Clin Chim Acta. 2020. PMID: 31730811 Free PMC article. Review.
While the metabolic basis for the accumulation of 3MG acid in subjects with deficiencies in HMGCL or AUH is apparent, the occurrence of 3MG aciduria in a host of unrelated inborn errors of metabolism associated with compromised mitochondrial energy metabolism is less clear …
While the metabolic basis for the accumulation of 3MG acid in subjects with deficiencies in HMGCL or AUH is apparent, the occurrence of 3MG …
Mitochondrial Diseases and Cardiomyopathies.
Brunel-Guitton C, Levtova A, Sasarman F. Brunel-Guitton C, et al. Can J Cardiol. 2015 Nov;31(11):1360-76. doi: 10.1016/j.cjca.2015.08.017. Epub 2015 Aug 28. Can J Cardiol. 2015. PMID: 26518446 Review.
It also describes groups of disorders that, although not usually classified as mitochondrial disorders, stem from defects in mitochondrial function (eg, disorders of beta-oxidation and the carnitine cycle), are associated with secondary mitochondrial impairment (eg, organic
It also describes groups of disorders that, although not usually classified as mitochondrial disorders, stem from defects in mitochondrial f …
Organic acidurias in adults: late complications and management.
Tuncel AT, Boy N, Morath MA, Hörster F, Mütze U, Kölker S. Tuncel AT, et al. J Inherit Metab Dis. 2018 Sep;41(5):765-776. doi: 10.1007/s10545-017-0135-2. Epub 2018 Jan 15. J Inherit Metab Dis. 2018. PMID: 29335813 Review.
Organic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of inherited metabolic diseases delineated with the implementation of gas chromatography/mass spectrometry in metabolic laboratories starting in the 1960s and 1970s. ...Tandem
Organic acidurias (synonym, organic acid disorders, OADs) are a heterogenous group of inherited metabolic diseases deli
Inborn Errors of Metabolism: Becoming Ready for Rare.
Vergano SAS. Vergano SAS. Pediatr Rev. 2022 Jul 1;43(7):371-383. doi: 10.1542/pir.2022-005088. Pediatr Rev. 2022. PMID: 35773536 Review.
Disorders that are discussed in detail herein include disorders of amino acid metabolism, including amino acidopathies and organic acidurias; urea cycle disorders; defects in fatty acid beta-oxidation; disorders of carbohydrate metabolism, including the glycogen sto …
Disorders that are discussed in detail herein include disorders of amino acid metabolism, including amino acidopathies and organic
142 results