Matched unrelated bone marrow transplantation without splenectomy for a child with Gaucher disease caused by homozygosity of the L444P mutation, who also suffered from schizencephaly

Journal of Pediatric Hematology/Oncology

Volumn 29, Issue 1, 2007, Pages 57-59

  Chen, Rong Long ^a,b   Hou, Jia Woei ^b   Chang, Pau Yuan ^c   Tsai, Fuu Jen ^d   Wang, Pen Jung ^a  

^a TZU CHI UNIVERSITY   (Taiwan)

^b CHI MEI MEDICAL CENTER   (Taiwan)

^c CHANG GUNG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Bone marrow transplantation; Gaucher disease; Heterotopia; L444P mutation; Schizencephaly

Indexed keywords

BETA GLUCOSIDASE; BUSULFAN; CYCLOPHOSPHAMIDE; CYCLOSPORIN; IMIGLUCERASE; METHOTREXATE; TECELAC; THYMOCYTE ANTIBODY; UNCLASSIFIED DRUG;

ACUTE GRAFT VERSUS HOST DISEASE; ANEMIA; APRAXIA; BONE DENSITY; BONE MARROW BIOPSY; BONE MARROW TRANSPLANTATION; CASE REPORT; CONFERENCE PAPER; ENZYME REPLACEMENT; FEMALE; FOLLOW UP; GAUCHER DISEASE; GENE MUTATION; GRAFT REJECTION; HEMIPARESIS; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHIZENCEPHALY; SEPSIS; SKELETON MALFORMATION; SPLENECTOMY; STAPHYLOCOCCUS EPIDERMIDIS; THROMBOCYTOPENIA; VENTILATED PATIENT; WECHSLER INTELLIGENCE SCALE;

ANEMIA; APRAXIAS; BONE MARROW TRANSPLANTATION; BRAIN DISEASES; CHILD, PRESCHOOL; FEMALE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MUSCULOSKELETAL ABNORMALITIES; MUTATION, MISSENSE; PARESIS; SPLENECTOMY; TRANSPLANTATION, HOMOLOGOUS;

EID: 33846422354     PISSN: 10774114     EISSN: 15363678     Source Type: Journal    
DOI: 10.1097/MPH.0b013e3180308793     Document Type: Conference Paper

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