Phosphorylase kinase deficient liver glycogenosis: Progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)

Journal of Medical Genetics

Volumn 37, Issue 5, 2000, Pages 376-377

  Burwinkel, B ^a   Tanner, M S ^a   Kilimann, M W ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN SYNTHASE; PHOSPHORYLASE KINASE;

AMINO ACID SUBSTITUTION; AUTOSOMAL DISORDER; CASE REPORT; DISEASE COURSE; ENZYME ACTIVE SITE; ENZYME DEFICIENCY; GENE AMPLIFICATION; GENE MUTATION; GLYCOGEN STORAGE DISEASE; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; HUMAN TISSUE; INFANT; INFANT DISEASE; LETTER; LIVER BIOPSY; LIVER CIRRHOSIS; MALE; PRIORITY JOURNAL;

EID: 0034019690     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.5.376     Document Type: Letter

References (13)