Glycogen storage disease type IX: High variability in clinical phenotype

Molecular Genetics and Metabolism

Volumn 92, Issue 1-2, 2007, Pages 88-99

  Beauchamp, Nicholas James ^a   Dalton, Ann ^b   Ramaswami, Uma ^c   Niinikoski, Harri ^d   Mention, Karine ^e   Kenny, Patricio ^f   Kolho, Kaija Leena ^g   Raiman, Julian ^h   Walter, John ⁱ   Treacy, Eileen ^j   Tanner, Stuart ^a   Sharrard, Mark ^b  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF TURKU   (Finland)

^e Jeanne de Flandres Hospital   (France)

^f HOSPITAL BRITÁNICO DE BUENOS AIRES   (Argentina)

^g UNIVERSITY OF HELSINKI   (Finland)

^h EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

ⁱ ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^j CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

more..

Author keywords

Glycogen storage disease; Liver; Mutations; Phosphorylase kinase

Indexed keywords

LACTIC ACID; PHOSPHORYLASE KINASE; PHOSPHORYLASE KINASE ALPHA 2; PHOSPHORYLASE KINASE BETA 2; PHOSPHORYLASE KINASE GAMMA 2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; ENZYMOLOGY; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 9; HEPATOSPLENOMEGALY; HERITABILITY; HUMAN; HYPOGLYCEMIA; INFANT; LACTATE BLOOD LEVEL; LIPID BLOOD LEVEL; LIVER DISEASE; MALE; MUSCLE FATIGUE; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; URIC ACID BLOOD LEVEL;

AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PHOSPHORYLASE KINASE; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 34548449463     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.06.007     Document Type: Article

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