Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies

Molecular Genetics and Metabolism

Volumn 104, Issue 1-2, 2011, Pages 137-143

  Davit Spraul, Anne ^a   Piraud, Monique ^b   Dobbelaere, Dries ^c   Valayannopoulos, Vassili ^d   Labrune, Philippe ^e,f   Habes, Dalila ^a   Bernard, Olivier ^a,f   Jacquemin, Emmanuel ^a,f,g   Baussan, Christiane ^a  

^a BICÊTRE HOSPITAL   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d CHU   (France)

^e HÔPITAL ANTOINE BÉCLÈRE   (France)

^f UNIVERSITÉ PARIS SACLAY   (France)

^g INSERM   (France)

Author keywords

Glycogen Storage Disease type VI and IX; PHKA2; PHKB; PHKG2; PYGL

Indexed keywords

AMINOTRANSFERASE; GLYCOGEN; PHOSPHORYLASE; PHOSPHORYLASE KINASE;

AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CHILD; CHROMOSOME 16; CHROMOSOME 6; CLINICAL ARTICLE; DELETION MUTANT; DIAGNOSTIC ACCURACY; DIET RESTRICTION; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; EXON; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 6; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYPERLACTATEMIA; HYPOGLYCEMIA; LIVER BIOPSY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POSTPRANDIAL STATE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X CHROMOSOME;

CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT; LIVER; MALE; MUTATION; PHOSPHORYLASE KINASE; PHOSPHORYLASES;

EID: 80052553182     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.05.010     Document Type: Article

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