Fatal infantile neuromuscular presentation of glycogen storage disease type IV

Neuromuscular Disorders

Volumn 14, Issue 4, 2004, Pages 253-260

  Tay, Stacey K H ^a   Akman, Hasan O ^a   Chung, Wendy K ^a   Pike, Michael G ^b   Muntoni, Francesco ^c   Hays, Arthur P ^a   Shanske, Sara ^a   Valberg, Stephanie J ^d   Mickelson, James R ^d   Tanji, Kurenai ^a   DiMauro, Salvatore ^a  

^a Columbia University ^*  (United States)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c HAMMERSMITH HOSPITAL   (United Kingdom)

^d UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Andersen disease; Glycogen branching enzyme; Glycogen storage disease type IV; Hydrops fetalis; Hypotonia; Polyglucosan bodies

Indexed keywords

ARTICLE; CASE REPORT; CELL CLONE; DELETION MUTANT; ENZYME ACTIVITY; ENZYME ASSAY; EXON; FATALITY; FEMALE; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE 4; HEREDITARY SPINAL MUSCULAR ATROPHY; HETEROZYGOTE; HUMAN; INFANT; MUSCLE BIOPSY; PERIODIC ACID SCHIFF STAIN; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; WESTERN BLOTTING;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; BIOPSY; BLOTTING, WESTERN; BRAIN STEM; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; INFANT; INTRAMOLECULAR OXIDOREDUCTASES; LYSOSOMES; MICROSCOPY, ELECTRON; MUSCLE, SKELETAL; MUTATION; NEUROMUSCULAR DISEASES; P-AMINOSALICYLIC ACID; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; TRANS-ACTIVATORS;

EID: 12144288681     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2003.12.006     Document Type: Article

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