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GeneReviews® [Internet].
Adam MP, Everman DB, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2023.
GeneReviews by Title GeneReviews Advanced Search Help
Isolated Methylmalonic Acidemia.
Manoli I, Sloan JL, Venditti CP. 2005 Aug 16 [Updated 2022 Sep 8].
Multiple Acyl-CoA Dehydrogenase Deficiency.
Prasun P. 2020 Jun 18.
Glutaric Acidemia Type 1.
Larson A, Goodman S. 2019 Sep 19.
Propionic Acidemia.
Shchelochkov OA, Carrillo N, Venditti C. 2012 May 17 [Updated 2016 Oct 6].
Disorders of Intracellular Cobalamin Metabolism.
Sloan JL, Carrillo N, Adams D, et al. 2008 Feb 25 [Updated 2021 Dec 16].
Hereditary Fructose Intolerance.
Gaughan S, Ayres L, Baker PR II. 2015 Dec 17 [Updated 2021 Feb 18].
Autosomal Dominant Tubulointerstitial Kidney Disease – REN.
Živná M, Kidd K, Kmoch S, et al. 2011 Apr 5 [Updated 2020 Dec 10].
MELAS.
El-Hattab AW, Almannai M, Scaglia F. 2001 Feb 27 [Updated 2018 Nov 29].
RRM2B Mitochondrial DNA Maintenance Defects.
Lim AZ, McFarland R, Taylor RW, et al. 2014 Apr 17 [Updated 2021 Jun 24].
Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Cree and/or Ojibway Population.
Wallace SE, Bean LJH. 2019 May 16 [Updated 2020 Jan 16].
Zellweger Spectrum Disorder.
Steinberg SJ, Raymond GV, Braverman NE, et al. 2003 Dec 12 [Updated 2020 Oct 29].
Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Lumbee Population.
Wallace SE, Bean LJH. 2019 Sep 26 [Updated 2023 Jan 12].
Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish Population.
Wallace SE, Puffenberger EG, Bean LJH. 2020 Jun 18.
Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Inuit Population.
Wallace SE, Bean LJH. 2018 Dec 27 [Updated 2021 Nov 24].
PMM2-CDG.
Lam C, Krasnewich DM. 2005 Aug 15 [Updated 2021 May 20].
Maple Syrup Urine Disease.
Strauss KA, Puffenberger EG, Carson VJ. 2006 Jan 30 [Updated 2020 Apr 23].
Familial Hemophagocytic Lymphohistiocytosis.
Zhang K, Astigarraga I, Bryceson Y, et al. 2006 Mar 22 [Updated 2021 Sep 30].
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency.
Ganetzky R, Stojinski C. 2019 Jun 20.
Short-Chain Acyl-CoA Dehydrogenase Deficiency.
Wolfe L, Jethva R, Oglesbee D, et al. 2011 Sep 22 [Updated 2018 Aug 9].
Mitochondrial DNA-Associated Leigh Syndrome and NARP.
Thorburn DR, Rahman J, Rahman S. 2003 Oct 30 [Updated 2017 Sep 28].
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