Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 405-410

  Furujo, Mahoko ^a   Kubo, Toshihide ^a   Kobayashi, Masahisa ^b   Ohashi, Toya ^b  

^a National Hospital Organization   (Japan)

^b JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Agalsidase alpha; Child; Enzyme replacement therapy (ERT); Fabry disease

Indexed keywords

AGALSIDASE ALFA; ALPHA GALACTOSIDASE; IMMUNOGLOBULIN G ANTIBODY;

ADOLESCENT; ANHIDROSIS; ARTICLE; AUDITORY RESPONSE; CASE REPORT; CATCH UP GROWTH; CLINICAL ASSESSMENT; ENZYME ACTIVITY; ENZYME REPLACEMENT; EXON; FABRY DISEASE; HEMANGIOKERATOMA; HUMAN; JAPANESE; MALE; NEUROPATHIC PAIN; NOCICEPTION; PRIORITY JOURNAL; SIBLING; SLIT LAMP; SWEATING; SYMPTOM; URINE SEDIMENT;

AGALSIDASE ALPHA; BPI; BRIEF PAIN INVENTORY; CHILD; CRE; CREATININE; EF; EGFR; EJECTION FRACTION; ENZYME REPLACEMENT THERAPY; ENZYME REPLACEMENT THERAPY (ERT); ERT; ESTIMATED GLOMERULAR FILTRATION RATE; FABRY DISEASE; GB3; GLOBOTRIAOSYL CERAMIDE; GLYCOSPHINGOLIPIDS; GSL; LEFT VENTRICULAR MASS INDEX; LVMI; MAGNETIC RESONANCE IMAGING; MRI;

ADOLESCENT; ALPHA-GALACTOSIDASE; ANGIOKERATOMA; CHILD; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; HUMANS; MALE; NEURALGIA; PEDIGREE; SIBLINGS; TREATMENT OUTCOME; TRIHEXOSYLCERAMIDES;

EID: 84885431654     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.07.005     Document Type: Article

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