Two clinical forms of glycogen-storage disease type II in two generations of the same family [3]

Clinical Genetics

Volumn 69, Issue 2, 2006, Pages 187-188

  Amartino, Hernán ^a   Painceira, D ^b   Pomponio, R J ^b   Niizawa, G ^b   Sabio Paz, V ^b   Blanco, M ^b   Chamoles, N ^b  

^a Laboratory of Neurochemistry Ciudad Autonoma de Buenos Aires   (Argentina)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; GLUCAN 1,4 ALPHA GLUCOSIDASE;

CARDIOMEGALY; CASE REPORT; CREATINE KINASE BLOOD LEVEL; CYANOSIS; DNA SEQUENCE; ELECTROCARDIOGRAM; ENZYME ACTIVITY; FAMILY; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HEART LEFT VENTRICLE MASS; HEART VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LETTER; LYMPHOCYTE; MALE; MUSCLE HYPOTONIA; PRIORITY JOURNAL; QRS COMPLEX; REFLEX DISORDER; TONGUE DISEASE;

ADULT; FAMILY HEALTH; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT, NEWBORN; MALE;

EID: 33644850864     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00557.x     Document Type: Letter

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