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Items: 1 to 20 of 113

1.

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].

2.

Argininosuccinate lyase deficiency.

Nagamani SC, Erez A, Lee B.

Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Review.

3.

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].

4.

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].

5.

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.

6.

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].

7.

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.

8.

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].

9.

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].

10.

Citrin Deficiency.

Saheki T, Song YZ.

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 Sep 16 [updated 2017 Aug 10].

11.

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].

12.

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.

13.

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].

14.

Carbonic Anhydrase VA Deficiency.

van Karnebeek C, Häberle 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 Apr 2.

15.

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].

16.

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].

17.

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].

18.

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency.

Sacharow SJ, Picker JD, Levy HL.

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 Jan 15 [updated 2017 May 18].

19.

Phenylalanine Hydroxylase Deficiency.

Regier DS, Greene CL.

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.
2000 Jan 10 [updated 2017 Jan 5].

20.

Epimerase Deficiency Galactosemia.

Fridovich-Keil J, Bean L, He M, Schroer R.

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 Jan 25 [updated 2016 Jun 16].

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