Neonatal neuromuscular variant of glycogen storage disease type IV: Histopathological findings leading to the diagnosis [6]

Histopathology

Volumn 48, Issue 7, 2006, Pages 878-880

  Konstantinidou, A E ^a   Anninos, H ^a   Gyftodimou, Y ^b   Petersen, M B ^b   Karadimas, C ^c   Fotopoulos, S ^b   Paraskevakou, H ^a   Akman, H O ^c   DiMauro, S ^c   Patsouris, E ^a  

^a UNIVERSITY OF ATHENS   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^c Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME;

1,4 ALPHA GLUCAN BRANCHING ENZYME DEFICIENCY; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; DIAGNOSTIC APPROACH ROUTE; ENZYME DEFICIENCY; GENERAL CONDITION DETERIORATION; GLYCOGEN STORAGE DISEASE TYPE 4; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; LABORATORY TEST; LETTER; MALE; NEUROMUSCULAR DISEASE; NEWBORN DEATH; NEWBORN DISEASE; PANCREAS ISLET CELL HYPERPLASIA; PRIORITY JOURNAL; SKELETAL MUSCLE;

DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; INFANT, NEWBORN; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUSCLE, SKELETAL;

EID: 33744461812     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/j.1365-2559.2006.02425.x     Document Type: Letter

References (6)

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4. Janecke AR, Dertinger S, Ketelsen UP et al. Neonatal type IV glycogen storage disease associated with 'null' mutations in glycogen branching enzyme 1. J. Pediatr. 2004 145 705 709.
5. Jaffe R. The endocrine pancreas. In Wigglesworth JS, Singer DB eds. Textbook of fetal and perinatal pathology. Oxford : Blackwell Science 1998 919.
6. Tay SK, Akman HO, Chung WK. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul. Disord. 2004 14 253 260.