Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: An emerging diagnosis of muscle weakness in the perinatal period

Histopathology

Volumn 54, Issue 6, 2009, Pages 765-768

  Jimenez Mallebrera, Cecilia ^a   Nascimento, Andres ^a   Cusi, Victoria ^b   Corbera, Joan Ramon ^b   Rolland, Marie Odile ^c   Froissart, Rosaline ^c   Olivé, Montse ^d,e   Ferrer, Isidro ^b,d,e   Colomer, Jaume ^a  

^a Servicio de Neurología   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c Centre de Biologie Est   (France)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME;

ARTIFICIAL VENTILATION; CASE REPORT; CESAREAN SECTION; DIFFERENTIAL DIAGNOSIS; ELECTROMYOGRAM; ENZYME DEFICIENCY; GESTATIONAL AGE; GLYCOGEN BRANCHING ENZYME DEFICIENCY; GLYCOGEN STORAGE DISEASE TYPE 2; GLYCOGEN STORAGE DISEASE TYPE 4; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN TISSUE; INFANT; LETTER; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TWO DIMENSIONAL ECHOCARDIOGRAPHY; ULTRASOUND;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; INFANT; MALE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; QUADRICEPS MUSCLE;

EID: 65349184487     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/j.1365-2559.2009.03281.x     Document Type: Letter

References (8)

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