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Items: 1 to 20 of 163

1.

Propionic Acidemia.

Shchelochkov OA, Carrillo N, Venditti C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 May 17 [updated 2016 Oct 6].

2.

Isolated Methylmalonic Acidemia.

Manoli I, Sloan JL, Venditti CP.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Aug 16 [updated 2016 Dec 1].

3.

Argininosuccinate Lyase Deficiency.

Nagamani SCS, Erez A, Lee B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 Feb 3 [updated 2012 Feb 2].

4.

Disorders of Intracellular Cobalamin Metabolism.

Carrillo N, Adams D, Venditti CP.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Feb 25 [updated 2013 Nov 21].

5.

Ornithine Transcarbamylase Deficiency.

Lichter-Konecki U, Caldovic L, Morizono H, Simpson K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Aug 29 [updated 2016 Apr 14].

6.

Dihydrolipoamide Dehydrogenase Deficiency.

Quinonez SC, Thoene JG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Jul 17.

7.

Citrullinemia Type I.

Quinonez SC, Thoene JG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Jul 7 [updated 2016 Sep 1].

8.

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Camacho J, Rioseco-Camacho N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 May 31.

9.

Maple Syrup Urine Disease.

Strauss KA, Puffenberger EG, Morton DH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Jan 30 [updated 2013 May 9].

10.

TANGO2-Related Metabolic Encephalopathy and Arrhythmias.

Lalani SR, Graham B, Burrage L, Lai YC, Scaglia F, Miyake C, Yang Y.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2018 Jan 25.

11.

Phosphorylase Kinase Deficiency.

Goldstein J, Austin S, Kishnani P, Bali D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 May 31.

12.

Systemic Primary Carnitine Deficiency.

El-Hattab AW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2012 Mar 15 [updated 2016 Nov 3].

13.

Glycine Encephalopathy.

Van Hove J, Coughlin C II, Scharer G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2002 Nov 14 [updated 2013 Jul 11].

14.

Hereditary Fructose Intolerance.

Baker P II, Ayres L, Gaughan S, Weisfeld-Adams J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2015 Dec 17.

15.

RRM2B-Related Mitochondrial Disease.

Gorman GS, Taylor RW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Apr 17.

16.

Glycogen Storage Disease Type I.

Bali DS, Chen YT, Austin S, Goldstein JL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Apr 19 [updated 2016 Aug 25].

17.

Arginase Deficiency.

Wong D, Cederbaum S, Crombez EA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Oct 21 [updated 2014 Aug 28].

18.

Lysinuric Protein Intolerance.

Nunes V, Niinikoski H.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Dec 21 [updated 2018 Apr 12].

19.

Familial Hyperinsulinism.

Glaser B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Aug 19 [updated 2013 Jan 24].

20.

Carnitine Palmitoyltransferase 1A Deficiency.

Bennett MJ, Santani AB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Jul 27 [updated 2016 Mar 17].

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