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GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
GeneReviews by Title GeneReviews Advanced Search Help
GLB1-Related Disorders.
Regier DS, Tifft CJ, Rothermel CE. 2013 Oct 17 [Updated 2021 Apr 22].
Isolated Methylmalonic Acidemia.
Manoli I, Sloan JL, Venditti CP. 2005 Aug 16 [Updated 2022 Sep 8].
Sandhoff Disease.
Xiao C, Tifft C, Toro C. 2022 Apr 14.
FMR1 Disorders.
Hunter JE, Berry-Kravis E, Hipp H, et al. 1998 Jun 16 [Updated 2024 May 16].
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Leslie ND, Saenz-Ayala S. 2009 May 28 [Updated 2023 Jul 13].
GeneReviews Glossary.
X-Linked Adrenoleukodystrophy.
Raymond GV, Moser AB, Fatemi A. 1999 Mar 26 [Updated 2023 Apr 6].
HPRT1 Disorders.
Jinnah HA. 2000 Sep 25 [Updated 2020 Aug 6].
Familial Hypercholesterolemia.
Ison HE, Clarke SL, Knowles JW. 2014 Jan 2 [Updated 2022 Jul 7].
HEXA Disorders.
Toro C, Shirvan L, Tifft C. 1999 Mar 11 [Updated 2020 Oct 1].
Epidermolysis Bullosa Simplex.
So JY, Teng J. 1998 Oct 7 [Updated 2022 Aug 4].
ATP7A-Related Copper Transport Disorders.
Kaler SG, DiStasio AT. 2003 May 9 [Updated 2021 Apr 15].
Autosomal Dominant TRPV4 Disorders.
McCray BA, Schindler A, Hoover-Fong JE, et al. 2014 May 15 [Updated 2020 Sep 17].
Dihydrolipoamide Dehydrogenase Deficiency.
Quinonez SC, Thoene JG. 2014 Jul 17 [Updated 2021 Sep 30].
AARS2-Related Disorder.
Chmiela T, Wszolek ZK. 2024 Oct 31.
RRM2B Mitochondrial DNA Maintenance Defects.
Lim AZ, McFarland R, Taylor RW, et al. 2014 Apr 17 [Updated 2021 Jun 24].
Multiple Acyl-CoA Dehydrogenase Deficiency.
Prasun P. 2020 Jun 18.
CLCN7-Related Osteopetrosis.
Sobacchi C, Villa A, Schulz A, et al. 2007 Feb 12 [Updated 2022 Jan 20].
SETD2 Neurodevelopmental Disorders.
Pappas J, Rabin R. 2021 Dec 30 [Updated 2022 Sep 22].
Disorders of Intracellular Cobalamin Metabolism.
Sloan JL, Carrillo N, Adams D, et al. 2008 Feb 25 [Updated 2021 Dec 16].
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