Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis-Reference-Cited by-同舟云学术

Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis

Published:2018-01 Issue: Volume:6 Page:232640981879685
ISSN:2326-4098
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:en
Short-container-title:Journal of Inborn Errors of Metabolism and Screening

Author:

Borgwardt Line¹²,Guffon Nathalie³,Amraoui Yasmina⁴,Jones Simon A.⁵,De Meirleir Linda⁶,Lund Allan M.⁷,Gil-Campos Mercedes⁸,Van den Hout Johanna M. P.⁹,Tylki-Szymanska Anna¹⁰,Geraci Silvia¹¹,Ardigò Diego¹¹,Cattaneo Federica¹¹,Harmatz Paul¹²,Phillips Dawn¹³

Affiliation:

1. Centre for Inherited Metabolic Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

2. Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

3. Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Femme Mère Enfant, Lyon, France

4. University Medical Centre Mainz, Centre for Pediatric and Adolescent Medicine, Villa Metabolica, Mainz, Germany

5. Manchester Centre for Genomic Medicine, St. Mary’s Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, United Kingdom

6. Paediatric Neurology and Metabolism, Universitair Ziekenhuis, Brussels, Belgium

7. Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

8. Unidad de Metabolismo e Investigación Pediátrica, Hospital Reina Sofía, Córdoba, Spain

9. Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center—Sophia Children’s Hospital, Rotterdam, the Netherlands

10. Department of Paediatric, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland

11. Chiesi Farmaceutici S.p.A, Parma, Italy

12. UCSF Benioff Children’s Hospital Oakland, Oakland, CA, USA

13. Evidera, Bethesda, MD, USA

Funder

Chiesi Farmaceutici S.p.A.

Publisher

FapUNIFESP (SciELO)

Subject

Genetics(clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/2326409818796854

Reference23 articles.

1. Spectrum of Mutations in α-Mannosidosis

2. Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis

3. Alpha-Mannosidosis

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