The difference between rare and exceptionally rare: Molecular characterization of ribose 5-phosphate isomerase deficiency

Journal of Molecular Medicine

Volumn 88, Issue 9, 2010, Pages 931-939

  Wamelink, Mirjam M C ^a   Grüning, Nana Maria ^b   Jansen, Erwin E W ^a   Bluemlein, Katharina ^b   Lehrach, Hans ^b   Jakobs, Cornelis ^a   Ralser, Markus ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Carbohydrate metabolism; Pentose phosphate pathway; Rare metabolic disease; Ribose 5 phosphate isomerase deficiency

Indexed keywords

ISOMERASE; MESSENGER RNA; RIBOSEPHOSPHATE ISOMERASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVATION; ENZYME ACTIVITY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; PHENOTYPE; PROTEIN EXPRESSION; RIBOSE 5 PHOSPHATE ISOMERASE DEFICIENCY;

ALDOSE-KETOSE ISOMERASES; FIBROBLASTS; HUMANS; METABOLIC DISEASES; PENTOSE PHOSPHATE PATHWAY; RNA, MESSENGER;

EID: 77956400437     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-010-0634-1     Document Type: Article

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