Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: From our experience of 4 cases including an autopsy case

Molecular Genetics and Metabolism

Volumn 100, Issue 1, 2010, Pages 14-19

  Kobayashi, Hiroshi ^a   Shimada, Yohta ^a   Ikegami, Masahiro ^a   Kawai, Toshinao ^a   Sakurai, Ken ^a   Urashima, Takashi ^a   Ijima, Masatoshi ^a   Fujiwara, Masako ^a   Kaneshiro, Eiko ^a   Ohashi, Toya ^a   Eto, Yoshikatsu ^a   Ishigaki, Keiko ^b   Osawa, Makiko ^b   Kyosen, Sandra Obikawa ^c   Ida, Hiroyuki ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

ERT; GAA; Late onset; Pompe disease; PVOD

Indexed keywords

MEROPENEM; MILRINONE; NITRIC OXIDE; NITROGEN OXIDE; PHOSPHODIESTERASE III INHIBITOR; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; STEROID;

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; ASPIRATION PNEUMONIA; AUTOPSY; BODY MASS; CASE REPORT; CLINICAL FEATURE; DIAPHRAGM; DISEASE EXACERBATION; DYSPNEA; EARLY DIAGNOSIS; ECHOCARDIOGRAPHY; ENZYME REPLACEMENT; FEMALE; GENOTYPE; GLYCOGEN MUSCLE LEVEL; GLYCOGEN STORAGE DISEASE TYPE 2; HEMODIAFILTRATION; HUMAN; ILIOPSOAS MUSCLE; LUNG INSUFFICIENCY; MALE; MUSCLE BIOPSY; PRIORITY JOURNAL; PROGNOSIS; PULMONARY HYPERTENSION; PULMONARY VENO-OCCLUSIVE DISEASE; RESPIRATORY FAILURE;

ADOLESCENT; ADULT; ALPHA-GLUCOSIDASES; AUTOPSY; CHILD, PRESCHOOL; ENZYME REPLACEMENT THERAPY; FATAL OUTCOME; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; HYPERTENSION, PULMONARY; MALE; PROGNOSIS; PULMONARY VENO-OCCLUSIVE DISEASE;

EID: 77950518316     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.01.015     Document Type: Article

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