Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: Elucidation of the CARKL gene

Human Mutation

Volumn 29, Issue 4, 2008, Pages 532-536

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

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

CARKL; Cystinosis; Sedoheptulokinase; Sedoheptulose

Indexed keywords

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; ERYTHRITOL; MONOSACCHARIDE; PHOSPHOTRANSFERASE; SEDOHEPTULOKINASE; SEDOHEPTULOSE; SEDOHEPTULOSE 7 PHOSPHATE; UNCLASSIFIED DRUG; AMINO ACID TRANSPORTER; CARKL PROTEIN, HUMAN; CTNS PROTEIN, HUMAN; HEPTOSE; TRANSCRIPTION FACTOR; CARBOHYDRATE KINASE LIKE; CREATININE; ENZYME; PROTEIN; VANILLOID RECEPTOR 1;

ARTICLE; CARKL GENE; CELL FREE SYSTEM; CLINICAL ARTICLE; CTNS GENE; CYSTINOSIS; ENZYME DEFICIENCY; ENZYME PHOSPHORYLATION; FIBROBLAST; GENE; GENE DELETION; HOMOZYGOSITY; HUMAN; KIDNEY DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEDOHEPTULOKINASE DEFICIENCY; URINALYSIS; URINE LEVEL; ADOLESCENT; ADULT; BIOLOGICAL MODEL; CASE CONTROL STUDY; CHILD; CHROMOSOME MAP; ENZYMOLOGY; GENETICS; INFANT; PENTOSE PHOSPHATE CYCLE; RECESSIVE GENE; URINE; CONTROLLED STUDY; ENZYME ACTIVITY; KIDNEY CONCENTRATING CAPACITY; SCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CASE-CONTROL STUDIES; CHILD; CHROMOSOME MAPPING; CYSTINOSIS; ERYTHRITOL; FIBROBLASTS; GENES, RECESSIVE; HEPTOSES; HUMANS; INFANT; MODELS, BIOLOGICAL; PENTOSE PHOSPHATE PATHWAY; PHOSPHOTRANSFERASES; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 42049085325     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20685     Document Type: Article

References (22)

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