The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Molecular Genetics and Metabolism

Volumn 113, Issue 3, 2014, Pages 171-176

  Roscher, Anne ^a,b   Patel, Jaina ^a   Hewson, Stacy ^a   Nagy, Laura ^a   Feigenbaum, Annette ^a,c   Kronick, Jonathan ^a   Raiman, Julian ^a   Schulze, Andreas ^a,d   Siriwardena, Komudi ^a   Mercimek Mahmutoglu, Saadet ^a,d  

^a UNIVERSITY OF TORONTO   (Canada)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c RADY CHILDREN'S HOSPITAL   (United States)

^d HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

Glycogen storage disease types VI and IX; Liver fibrosis; Phosphorylase enzyme deficiency; Phosphorylase kinase enzyme deficiency; Uncooked cornstarch

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; GLYCOGEN PHOSPHORYLASE; PHOSPHORYLASE; PHOSPHORYLASE KINASE; PHOSPHORYLASE KINASE A2; PHOSPHORYLASE KINASE B; PHOSPHORYLASE KINASE G2; STARCH; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BIOCHEMISTRY; CANADA; CARDIOMYOPATHY; CASE STUDY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC IMAGING; DISEASE SEVERITY; DRUG DOSE INCREASE; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; FAILURE TO THRIVE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 6; GLYCOGEN STORAGE DISEASE TYPE 9; HEPATOMEGALY; HUMAN; HYPERCHOLESTEROLEMIA; HYPERTRIGLYCERIDEMIA; LANGUAGE DELAY; LIVER; LIVER ADENOMA; LIVER BIOPSY; LIVER FIBROSIS; MALE; MEDICAL HISTORY; MEDICAL RECORD REVIEW; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; OBSERVATIONAL STUDY; PORTAL HYPERTENSION; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SCHOOL CHILD; SHORT STATURE; SPLENOMEGALY; STOP CODON; TREATMENT OUTCOME; ULTRASOUND; YOUNG ADULT; COMPLICATION; GENETICS; GLYCOGEN STORAGE DISEASE TYPE VI; LIVER CIRRHOSIS; NUCLEOTIDE SEQUENCE;

ADOLESCENT; CANADA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE VI; HUMANS; LIVER CIRRHOSIS; MALE; RETROSPECTIVE STUDIES; TREATMENT OUTCOME;

EID: 84914146167     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.09.005     Document Type: Article

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