Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy
- Author
- KAMPMANN, Christoph1 ; LAMPE, Christina2 ; WHYBRA-TRÜMPLER, Catharina3 ; WIETHOFF, Christiane M1 ; MENGEL, Eugen2 ; ARASH, Laila2 ; BECK, Michael2 ; MIEBACH, Elke2
[1] Department of Paediatric cardiology, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Mainz, Germany
[2] Villa Metabolica, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Mainz, Germany
[3] Department of Neonatology, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Mainz, Germany - Issue title
- 50 years of Newborn Screening
- Author (monograph)
- HOFFMANN, Georg F (Editor)1 ; LINDNER, Martin (Editor)1 ; LOEBER, Gerard (Editor)2
[1] Department of General Pediatrics, University of Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany
[2] ISNS Office, Bilthoven, Netherlands - Source
Journal of inherited metabolic disease. 2014, Vol 37, Num 2, pp 269-276, 8 p ; ref : 3/4 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 Coeur Enzyme Enzymopathie Glucide Génétique Maladie héréditaire Maladie métabolique Mucopolysaccharidose de Maroteaux Nutrition Traitement substitutif Implication Appareil circulatoire Pathologie du système ostéoarticulaire Traitement
- Keyword (en)
- Chemotherapy Heart Enzyme Enzymopathy Carbohydrate Genetics Genetic disease Metabolic diseases Maroteaux mucopolysaccharidosis Nutrition Replacement therapy Circulatory system Diseases of the osteoarticular system Treatment
- Keyword (es)
- Quimioterapia Corazón Enzima Enzimopatía Glúcido Genética Enfermedad hereditaria Metabolismo patología Mucopolisacaridosis Maroteaux Nutrición Tratamiento sustitutivo Aparato circulatorio Sistema osteoarticular patología 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
- 28597143
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/s10545-013-9649-4 
https://dx.doi.org/10.1007/s10545-013-9649-4
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