International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome-Reference-Cited by-同舟云学术

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

Published:2018-10-23 Issue:12 Volume:107 Page:2059-2065
ISSN:0803-5253
Container-title:Acta Paediatrica
language:en
Short-container-title:Acta Paediatr

Author:

Parini Rossella¹²^ORCID,Broomfield Alexander³,Cleary Maureen A.⁴,De Meirleir Linda⁵,Di Rocco Maja⁶,Fathalla Waseem M.⁷,Guffon Nathalie⁸,Lampe Christina⁹,Lund Allan M.¹⁰,Scarpa Maurizio¹¹,Tylki-Szymańska Anna¹²,Zeman Jiří¹³

Affiliation:

1. Rare Metabolic Diseases Unit; Paediatric Clinic; MBBM Foundation; San Gerardo University Hospital; Monza Italy

2. TIGET Institute; IRCCS San Raffaele Hospital; Milano Italy

3. Willink Biochemical Genetics Unit; Manchester Centre for Genomic Medicine; St Mary's Hospital; Central Manchester Foundation Trust; Manchester UK

4. Metabolic Unit; Great Ormond Street Hospital NHS Trust; London UK

5. Department of Pediatric Neurology and Metabolic Diseases; UZ Brussel; Brussels Belgium

6. Unit of Rare Diseases; Department of Pediatrics; IRCCS Giannina Gaslini; Genova Italy

7. Division of Paediatric Neurology; Department of Paediatrics; Mafraq Hospital; Abu Dhabi UAE

8. Reference Centre of Metabolic Diseases; HFME Hospital; Bron France

9. Children's Hospital; University Medical Center; Johannes Gutenberg University; Mainz Germany

10. Centre for Inherited Metabolic Diseases; Department of Clinical Genetics, Rigshospitalet; Copenhagen University Hospital; Copenhagen Denmark

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

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

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

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/apa.14587/fullpdf

Reference49 articles.

1. The diagnostic journey of patients with mucopolysaccharidosis I: a real-world survey of patient and physician experiences;Bruni;Mol Genet Metab Rep,2016

2. Mucopolysaccharidosis I; Parental beliefs about the impact of disease on the quality of life of their children;Soni-Jaiswal;Orphanet J Rare Dis,2016

3. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation;Hobbs;Lancet,1981

4. Open issues in Mucopolysaccharidosis type I-Hurler;Parini;Orphanet J Rare Dis,2017

5. The mucopolysaccharidoses: a clinical review and guide to management;Wraith;Arch Dis Child,1995

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