Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway-Reference-Cited by-同舟云学术

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

Published:2011-12 Issue:6 Volume:89 Page:806-812
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mayr Johannes A.,Freisinger Peter,Schlachter Kurt,Rolinski Boris,Zimmermann Franz A.,Scheffner Thomas,Haack Tobias B.,Koch Johannes,Ahting Uwe,Prokisch Holger,Sperl Wolfgang

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference24 articles.

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4. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3;Zeng;Am. J. Hum. Genet.,2005

5. Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: Biotin is not a substrate for hTHTR2;Subramanian;Am. J. Physiol. Cell Physiol.,2006

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