Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment-Reference-Cited by-同舟云学术

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

Published:2018-07-13 Issue:8 Volume:107 Page:1402-1408
ISSN:0803-5253
Container-title:Acta Paediatrica
language:en
Short-container-title:Acta Paediatr

Author:

Tylki-Szymańska Anna¹^ORCID,De Meirleir Linda²,Di Rocco Maja³,Fathalla Waseem M.⁴,Guffon Nathalie⁵,Lampe Christina⁶,Lund Allan M.⁷,Parini Rossella⁸^ORCID,Wijburg Frits A.⁹,Zeman Jiri¹⁰,Scarpa Maurizio⁶¹¹

Affiliation:

1. Department of Pediatrics, Nutrition and Metabolic Diseases; The Children's Memorial Health Institute; Warsaw Poland

2. Department of Paediatric Neurology and Metabolic Diseases; Brussels Belgium

3. Unit of Rare Diseases; Department of Paediatrics; IRCCS Giannina Gaslini; Genova Italy

4. Division of Child Neurology; Department of Pediatrics; Mafraq Hospital; Bani Yas Abu Dhabi United Arab Emirates

5. Reference Centre of Metabolic Diseases; Hôpital Femme Mère Enfant (HFME); Bron France

6. Center for Rare Diseases; Clinic for Paediatric and Adolescent Medicine; HELIOS Dr. Horst Schmidt Kliniken Wiesbaden; Wiesbaden Germany

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

8. Rare Metabolic Diseases Unit; Paediatric Clinic; Fondazione MBBM; San Gerardo University Hospital; Monza Italy

9. Department of Paediatrics; Academic Medical Center; Amsterdam The Netherlands

10. Department of Pediatrics and Adolescent Medicine; First Faculty of Medicine; Charles University and General University Hospital; Prague Czech Republic

11. Department of Pediatrics; University of Padova; Padova Italy

Funder

Sanofi Genzyme

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/apa.14417/fullpdf

Reference31 articles.

1. The natural history of MPS I: global perspectives from the MPS I Registry;Beck;Genet Med,2014

2. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry;D'Aco;Eur J Pediatr,2012