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Items: 1 to 20 of 218

1.

Krabbe Disease.

Orsini JJ, Escolar ML, Wasserstein MP, Caggana M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2000 Jun 19 [updated 2018 Oct 11].

2.

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; 1993-2019.
2013 Aug 29 [updated 2016 Apr 14].

3.

Arylsulfatase A Deficiency.

Gomez-Ospina 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; 1993-2019.
2006 May 30 [updated 2017 Dec 14].

4.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Oct 10 [updated 2013 Aug 1].

5.

Psychosine, a marker of Krabbe phenotype and treatment effect.

Escolar ML, Kiely BT, Shawgo E, Hong X, Gelb MH, Orsini JJ, Matern D, Poe MD.

Mol Genet Metab. 2017 Jul;121(3):271-278. doi: 10.1016/j.ymgme.2017.05.015. Epub 2017 May 22.

6.

Disorders of Intracellular Cobalamin Metabolism.

Sloan JL, 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; 1993-2019.
2008 Feb 25 [updated 2018 Sep 6].

7.

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; 1993-2019.
2002 Nov 14 [updated 2013 Jul 11].

8.

Mucopolysaccharidosis Type I.

Clarke LA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Oct 31 [updated 2016 Feb 11].

9.

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; 1993-2019.
2012 May 17 [updated 2016 Oct 6].

10.

Gaucher Disease.

Pastores GM, Hughes DA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2000 Jul 27 [updated 2018 Jun 21].

11.

Lysosomal Acid Lipase Deficiency.

Hoffman EP, Barr ML, Giovanni MA, Murray MF.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2015 Jul 30 [updated 2016 Sep 1].

12.

Tyrosine Hydroxylase Deficiency.

Furukawa Y, Kish S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Feb 8 [updated 2017 May 11].

13.

Pompe Disease.

Leslie N, Bailey L.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Aug 31 [updated 2017 May 11].

14.

Cystinosis.

Nesterova G, Gahl WA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Mar 22 [updated 2017 Dec 7].

15.

FARS2 Deficiency.

Almannai M, Faqeih E, El-Hattab AW, Wong LJC.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Mar 14.

16.

PLA2G6-Associated Neurodegeneration.

Gregory A, Kurian MA, Maher ER, Hogarth P, Hayflick SJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Jun 19 [updated 2017 Mar 23].

17.

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

Chuang WL, Pacheco J, Zhang XK, Martin MM, Biski CK, Keutzer JM, Wenger DA, Caggana M, Orsini JJ Jr.

Clin Chim Acta. 2013 Apr 18;419:73-6. doi: 10.1016/j.cca.2013.01.017. Epub 2013 Feb 16.

PMID:
23419961
18.

CLCN7-Related Osteopetrosis.

Sobacchi C, Villa A, Schulz A, Kornak U.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Feb 12 [updated 2016 Jun 9].

19.

Riboflavin Transporter Deficiency Neuronopathy.

Manole A, Houlden 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; 1993-2019.
2015 Jun 11.

20.

Glycogen Storage Disease Type IV.

Magoulas PL, 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; 1993-2019.
2013 Jan 3.

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