Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of theCARKLgene-Reference-Cited by-同舟云学术

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of theCARKLgene

Published:2008-01-10 Issue:4 Volume:29 Page:532-536
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Wamelink Mirjam M.C.,Struys Eduard A.,Jansen Erwin E.W.,Levtchenko Elena N.,Zijlstra Fokje S.M.,Engelke Udo,Blom Henk J.,Jakobs Cornelis,Wevers Ron A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

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3. The enzymatic phosphorylation of sedoheptulose;Ebata;J Biochem,1955

4. Complications of nephropathic cystinosis after renal failure;Gahl;Pediatr Nephrol,1987

5. New method for determining cystine in leukocytes and fibroblasts;de Graaf-Hess;Clin Chem,1999

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