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Results in this book: 1 to 20 of 117

GeneReviews® [Internet].

GeneReviews® [Internet].

Adam MP, Ardinger HH, Pagon RA, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2019.

GeneReviews by Title   GeneReviews Advanced Search   Help


1.

Isolated Methylmalonic Acidemia.

Manoli I, Sloan JL, Venditti CP. 2005 Aug 16 [Updated 2016 Dec 1].

2.

MELAS.

El-Hattab AW, Almannai M, Scaglia F. 2001 Feb 27 [Updated 2018 Nov 29].

3.

Propionic Acidemia.

Shchelochkov OA, Carrillo N, Venditti C. 2012 May 17 [Updated 2016 Oct 6].

4.

Mitochondrial Disorders Overview.

Chinnery PF. 2000 Jun 8 [Updated 2014 Aug 14].

5.
6.

Lowe Syndrome.

Lewis RA, Nussbaum RL, Brewer ED. 2001 Jul 24 [Updated 2019 Apr 18].

7.

Disorders of Intracellular Cobalamin Metabolism.

Sloan JL, Carrillo N, Adams D, et al. 2008 Feb 25 [Updated 2018 Sep 6].

8.

MPV17-Related Mitochondrial DNA Maintenance Defect.

El-Hattab AW, Wang J, Dai H, et al. 2012 May 17 [Updated 2018 May 17].

9.
10.

Amish Lethal Microcephaly.

Biesecker LG. 2003 Sep 4 [Updated 2017 Dec 7].

11.

Pseudohypoaldosteronism Type II.

Ellison DH. 2011 Nov 10 [Updated 2017 Feb 16].

12.

Hereditary Fructose Intolerance.

Baker P II, Ayres L, Gaughan S, et al. 2015 Dec 17.

13.

Mitochondrial DNA Maintenance Defects Overview.

El-Hattab AW, Craigen WJ, Wong LJC, et al. 2018 Mar 8.

14.
15.

Malignant Hyperthermia Susceptibility.

Rosenberg H, Sambuughin N, Riazi S, et al. 2003 Dec 19 [Updated 2013 Jan 31].

16.
17.
18.

Pyruvate Carboxylase Deficiency.

Wang D, De Vivo D. 2009 Jun 2 [Updated 2018 Mar 1].

19.

Mitochondrial DNA-Associated Leigh Syndrome and NARP.

Thorburn DR, Rahman J, Rahman S. 2003 Oct 30 [Updated 2017 Sep 28].

20.

MERRF.

DiMauro S, Hirano M. 2003 Jun 3 [Updated 2015 Jan 29].

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