Late form of Pompe disease with glycogen storage in peripheral nerves axons

Journal of the Neurological Sciences

Volumn 301, Issue 1-2, 2011, Pages 59-62

  Fidziańska, Anna ^a   Ługowska, Agnieszka ^b   Tylki Szymańska, Anna ^c  

^a POLISH ACADEMY OF SCIENCES   (Poland)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Acid alfa glucosidase; Creatine kinase; Glycogen storage; Glycogenosis type II; Muscle biopsy; Pompe disease

Indexed keywords

ALPHA GLUCOSIDASE; CREATINE KINASE; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; CASE REPORT; CHILD; DNA SEQUENCE; ELECTROCARDIOGRAM; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NERVE FIBER; NEUROLOGIC EXAMINATION; PERIPHERAL NERVE; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SCHOOL CHILD;

AGE OF ONSET; ALPHA-GLUCOSIDASES; ASYMPTOMATIC DISEASES; AXONS; CHILD; ENZYME REPLACEMENT THERAPY; FEMALE; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HETEROZYGOTE; HUMANS; LEUKOCYTES; LYSOSOMES; MICROSCOPY, ELECTRON; MUSCLE, SKELETAL; MUTATION, MISSENSE; PERIPHERAL NERVES; STAINING AND LABELING; VACUOLES;

EID: 78751591345     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2010.10.031     Document Type: Article

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