Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
- Author
- HARMATZ, Paul1 ; YU, Zi-Fan2 ; SCARPA, Maurizio9 ; KETTERIDGE, David10 ; HOPWOOD, John J; PLECKO, Barbara; STEINER, Robert; WHITLEY, Chester B; KAPLAN, Paige; SWIEDLER, Stuart J; HARDY, Karen; BERGER, Kenneth I; GIUGLIANI, Roberto3 ; DECKER, Celeste; SCHWARTZ, Ida Vanessa D3 ; GUFFON, Nathalie4 ; LEAO TELES, Elisa5 ; CLARA SA MIRANDA, M6 ; EDMOND WRAITH, J7 ; BECK, Michael8 ; ARASH, Laila8
[1] Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA 94609, United States
[2] Statistics Collaborative, Inc, Washington, DC, United States
[3] Medical Genetics Service/ HCPA and Department of Genetics/ UFRGS, Porto Alegre, Brazil
[4] Hôpital Femme Mère Enfant, Service Maladies Métaboliques, Bron, France
[5] Departamento Pediatria, Hospital de Sao João, Unidade de Doenças Metabólicas, Porto, Portugal
[6] Instituto de Biologia Molecular e Celular, Unidade de Biologia do Lisossoma e Peroxisoma, Porto, Portugal
[7] Royal Manchester Children's Hosp, Manchester, United Kingdom
[8] Children's Hosp, University of Mainz, Mainz, Germany
[9] Department of Pediatrics, University of Padova, Padova, Italy
[10] SA Pathology at Women's and Children's Hospital, North Adelaide, SA, Australia - Source
Journal of inherited metabolic disease. 2010, Vol 33, Num 1, pp 51-60, 10 p ; ref : 1/2 p
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Chimiothérapie Enzyme Enzymopathie Evaluation Fonction respiratoire Glucide Génétique Homme Long terme Malade Maladie héréditaire Maladie métabolique Mucopolysaccharidose de Maroteaux N-Acetylgalactosamine-4-sulfatase Nutrition Protéine recombinante Traitement substitutif Esterases Hydrolases Pathologie du système ostéoarticulaire Sulfuric ester hydrolases Traitement
- Keyword (en)
- Chemotherapy Enzyme Enzymopathy Evaluation Lung function Carbohydrate Genetics Human Long term Patient Genetic disease Metabolic diseases Maroteaux mucopolysaccharidosis N-Acetylgalactosamine-4-sulfatase Nutrition Recombinant protein Replacement therapy Esterases Hydrolases Diseases of the osteoarticular system Sulfuric ester hydrolases Treatment
- Keyword (es)
- Quimioterapia Enzima Enzimopatía Evaluación Función respiratoria Glúcido Genética Hombre Largo plazo Enfermo Enfermedad hereditaria Metabolismo patología Mucopolisacaridosis Maroteaux N-Acetylgalactosamine-4-sulfatase Nutrición Proteína recombinante Tratamiento sustitutivo Esterases Hydrolases Sistema osteoarticular patología Sulfuric ester hydrolases Tratamiento
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D03 Carbohydrates (enzymatic deficiencies). Glycogenosis
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22526387
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s10545-009-9007-8 
https://dx.doi.org/10.1007/s10545-009-9007-8
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