Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype

Pediatric Research

Volumn 48, Issue 3, 2000, Pages 329-334

  Weston, Brent W ^a   Lin, Ju Li ^g   Muenzer, Joseph ^a   Cameron, H Scott ^a   Arnold, Roland R ^b   Seydewitz, Hans H ^c   Mayatepek, Ertan ^d   Van Schaftingen, Emile ^e   Veiga Da Cunha, Maria ^e   Matern, Dietrich ^f   Chen, Y T ^f  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^f DUKE UNIVERSITY MEDICAL CENTER   (United States)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 6 PHOSPHATASE; GLUCOSE 6 PHOSPHATE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 1; HEPATOMEGALY; HUMAN; HYPOGLYCEMIA; INFANT; LACTIC ACIDEMIA; MALE; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033872302     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200009000-00011     Document Type: Article

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