Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 121

1.

Gaucher Disease.

Pastores GM, Hughes DA.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2000 Jul 27 [updated 2013 Sep 19].

2.

Mucopolysaccharidosis Type I.

Clarke LA, Heppner J.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2002 Oct 31 [updated 2011 Jul 21].

3.

Alpha-Thalassemia.

Origa R, Moi P, Galanello R, Cao A.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2005 Nov 1 [updated 2013 Nov 21].

4.

Alpha-Mannosidosis.

Malm D, Nilssen Ø.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2001 Oct 11 [updated 2012 May 03].

5.

Glycogen Storage Disease Type II (Pompe Disease).

Leslie N, Tinkle BT.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2007 Aug 31 [updated 2013 May 09].

6.

Sickle Cell Disease.

Bender MA, Douthitt Seibel G.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2003 Sep 15 [updated 2014 Oct 23].

7.

Glycogen Storage Disease Type IV.

Magoulas PL, El-Hattab AW.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2013 Jan 03.

8.

Adenosine Deaminase Deficiency.

Hershfield M.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2006 Oct 03 [updated 2014 Jun 19].

9.

Acid Sphingomyelinase Deficiency.

McGovern MM, Schuchman EH.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2006 Dec 07 [updated 2009 Jun 25].

10.

Autoimmune Lymphoproliferative Syndrome.

Bleesing JJH, Johnson J, Zhang K.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2006 Sep 14 [updated 2014 Sep 11].

11.

Atypical Hemolytic-Uremic Syndrome.

Noris M, Bresin E, Mele C, Remuzzi G.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2007 Nov 16 [updated 2013 Aug 08].

12.

Phosphorylase Kinase Deficiency.

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

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2011 May 31.

13.

Mucopolysaccharidosis Type II.

Scarpa M.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2007 Nov 06 [updated 2011 Feb 22].

14.

Hexosaminidase A Deficiency.

Kaback MM, Desnick RJ.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
1999 Mar 11 [updated 2011 Aug 11].

15.

Arylsulfatase A Deficiency.

Fluharty AL.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2006 May 30 [updated 2014 Feb 06].

16.

Mucolipidosis III Gamma.

Raas-Rothschild A, Spiegel R.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2010 Jan 28 [updated 2012 Jul 05].

17.

Diamond-Blackfan Anemia.

Clinton C, Gazda HT.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2009 Jun 25 [updated 2014 Sep 04].

18.

Fanconi Anemia.

Alter BP, Kupfer G.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2002 Feb 14 [updated 2013 Feb 07].

19.

Fabry Disease.

Mehta A, Hughes DA.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2002 Aug 05 [updated 2013 Oct 17].

20.

Beta-Thalassemia.

Cao A, Galanello R, Origa R.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2000 Sep 28 [updated 2013 Jan 24].

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk