Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: A case series

Molecular Genetics and Metabolism

Volumn 99, Issue 4, 2010, Pages 358-366

  Pineda, M ^a   Perez Poyato, M S ^a   O'Callaghan, M ^a   Vilaseca, M A ^a   Pocovi, M ^b   Domingo, R ^c   Ruiz Portal, L ^d   Verdu Perez A ^e   Temudo, T ^f   Gaspar, A ^g   Garcia Penas J J ^h   Roldan S ⁱ   Martin Fumero L ^j   Blanco de la Barca, O ^k   Garcia Silva M T ^l   Macias Vidal J ^a   Coll, M J ^a  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b UNIVERSITY OF ZARAGOZA   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^d HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^e HOSPITAL VIRGEN DE LA SALUD   (Spain)

^f HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^g HOSPITAL DE SANTA MARIA   (Portugal)

^h HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

ⁱ HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

^j HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^k Thoracic Surgery Department   (Spain)

^l HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

more..

Author keywords

CCL18; Chitotriosidase; Disability; Miglustat; Niemann Pick disease type C (NP C); PET

Indexed keywords

CHITOTRIOSIDASE; LOPERAMIDE; MIGLUSTAT; PROTEIN PARC;

ADOLESCENT; AGE DISTRIBUTION; ARTICLE; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COGNITION; CONTROLLED STUDY; DIARRHEA; DIET; DISABILITY; DISEASE COURSE; DISEASE SEVERITY; DRUG EFFICACY; DRUG TOLERABILITY; FEMALE; FLATULENCE; FOLLOW UP; FUNCTIONAL ASSESSMENT; HUMAN; INFANT; MACROPHAGE; MALE; NEUROLOGIC DISEASE; NIEMANN PICK DISEASE; ORAL REHYDRATION THERAPY; POSITRON EMISSION TOMOGRAPHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCORING SYSTEM;

1-DEOXYNOJIRIMYCIN; ADOLESCENT; ADULT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; COGNITION; FEMALE; HUMANS; MALE; NERVOUS SYSTEM DISEASES; NIEMANN-PICK DISEASE, TYPE C;

EID: 77649338296     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.11.007     Document Type: Article

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