Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

Journal of Inherited Metabolic Disease

Volumn 31, Issue 6, 2008, Pages 745-752

  Cox Brinkman, J ^a   Breemen, M J ^a   Maldegem, B T ^a   Bour, L ^a   Donker, W E ^a   Hollak, C E M ^a   Wijburg, F A ^a   Aerts, J M F G ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CHITOTRIOSIDASE; IMIGLUCERASE; MIGLUSTAT;

APRAXIA; ARTICLE; CASE REPORT; CHILD; COGNITIVE DEFECT; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; DIARRHEA; DRUG EFFICACY; DRUG MEGADOSE; EEG ABNORMALITY; ENZYME REPLACEMENT; ENZYME THERAPY; EVOKED BRAIN STEM AUDITORY RESPONSE; FAILURE TO THRIVE; FEMALE; GAUCHER DISEASE; GAZE PARALYSIS; HEPATOSPLENOMEGALY; HUMAN; KYPHOSIS; MALE; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; OPHTHALMOPLEGIA; SACCADIC EYE MOVEMENT; SIBLING; STRABISMUS SURGERY; SUBSTRATE REDUCTION THERAPY;

CHEMOKINE CCL3; CHEMOKINE CCL4; CHILD; CHILD, PRESCHOOL; ENZYMES; FAMILY HEALTH; FEMALE; GAUCHER DISEASE; HEXOSAMINIDASES; HOMOZYGOTE; HUMANS; MUTATION; TIME FACTORS; TREATMENT OUTCOME;

EID: 57649173607     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0873-2     Document Type: Article

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