Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings

Journal of Inherited Metabolic Disease

Volumn 27, Issue 5, 2004, Pages 609-620

  Giuffre B ^a,f   Parini, R ^a   Rizzuti, T ^a   Morandi, L ^b   van Diggelen, O P ^c   Bruno, C ^d   Giuffre M ^e   Corsello, G ^e   Mosca, F ^a  

^a PARKINSON INSTITUTE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF GENOA   (Italy)

^e UNIVERSITY OF PALERMO   (Italy)

^f NONE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLASE; AMYLOPECTIN; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOGEN;

ARTICLE; AUTOPSY; BIOCHEMISTRY; BRAIN; BREATHING PATTERN; CARDIOMEGALY; CASE REPORT; CELL INCLUSION; CESAREAN SECTION; CHILDBIRTH; CYTOPLASM; DEATH; DIAGNOSTIC TEST; DISEASE ACTIVITY; ENZYME ACTIVITY; EOSINOPHIL; FETUS DISTRESS; FETUS HYDROPS; FETUS MOVEMENT; FIBROBLAST CULTURE; GESTATIONAL AGE; GLYCOGEN STORAGE DISEASE TYPE 4; HEART MUSCLE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDRAMNIOS; HYPOREFLEXIA; KIDNEY; LABORATORY TEST; LIVER; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NEUROMUSCULAR DISEASE; NEWBORN; ONSET AGE; PERINATAL PERIOD; PRENATAL PERIOD; SIBLING; SKELETAL MUSCLE; SUCKING; SWALLOWING; ULTRASTRUCTURE; VENTILATOR;

EID: 4644310420     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000042980.45692.bb     Document Type: Article

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