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Results in this book: 1 to 20 of 55

GeneReviews® [Internet].

GeneReviews® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2021.

GeneReviews by Title   GeneReviews Advanced Search   Help


1.
2.

Glutaric Acidemia Type 1.

Larson A, Goodman S. 2019 Sep 19.

3.

Isolated Methylmalonic Acidemia.

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

4.

Propionic Acidemia.

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

5.

Disorders of Intracellular Cobalamin Metabolism.

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

6.

Autosomal Dominant Tubulointerstitial Kidney Disease – REN.

Živná M, Kidd K, Kmoch S, et al. 2011 Apr 5 [Updated 2020 Dec 10].

7.

Hereditary Fructose Intolerance.

Gaughan S, Ayres L, Baker PR II. 2015 Dec 17 [Updated 2021 Feb 18].

8.

MELAS.

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

9.

Zellweger Spectrum Disorder.

Steinberg SJ, Raymond GV, Braverman NE, et al. 2003 Dec 12 [Updated 2020 Oct 29].

13.

Maple Syrup Urine Disease.

Strauss KA, Puffenberger EG, Carson VJ. 2006 Jan 30 [Updated 2020 Apr 23].

15.

Fructose-1,6-Bisphosphatase Deficiency.

Bijarnia-Mahay S, Bhatia S, Arora V. 2019 Dec 5.

16.
17.

KCNT1-Related Epilepsy.

Gertler T, Bearden D, Bhattacharjee A, et al. 2018 Sep 20.

18.

KMT2B-Related Dystonia.

Abela L, Kurian MA. 2018 Apr 26.

20.

Hereditary Dystonia Overview.

Klein C, Lohmann K, Marras C, et al. 2003 Oct 28 [Updated 2017 Jun 22].

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