Infantile muscle phosphorylase-b-kinase deficiency. A case report

Neuropediatrics

Volumn 29, Issue 1, 1998, Pages 48-50

  Sahin, G ^a   Gungor T ^a   Rettwitz Volk, W ^a   Schlote, W ^a   Shin, Y S ^b   Podskarbi, T ^c   Sewell, A C ^a  

^a UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c Medical Immunological Laboratory   (Germany)

Author keywords

Floppy infant; Glycogenosis; Phosphorylase b kinase deficiency

Indexed keywords

GLYCOGEN; MUSCLE ENZYME; PHOSPHORYLASE KINASE;

ARTICLE; BRADYPNEA; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GLYCOGEN MUSCLE LEVEL; HUMAN; HYPERCAPNIA; INFANTILE HYPOTONIA; NEWBORN; PNEUMONIA; PRIORITY JOURNAL; RESPIRATORY FAILURE; SKELETAL MUSCLE; UPPER RESPIRATORY TRACT INFECTION;

BRAIN DISEASES, METABOLIC; FATAL OUTCOME; FEMALE; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MUSCLE HYPOTONIA; MUSCLE, SKELETAL; PERIPHERAL NERVOUS SYSTEM DISEASES; PHOSPHORYLASE KINASE;

EID: 6844237685     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973535     Document Type: Article

References (13)

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