International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
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| Title: | International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. |
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| Authors: | Parini R; Rare Metabolic Diseases Unit, Paediatric Clinic, MBBM Foundation, San Gerardo University Hospital, Monza, Italy.; TIGET Institute, IRCCS San Raffaele Hospital, Milano, Italy., Broomfield A; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK., Cleary MA; Metabolic Unit, Great Ormond Street Hospital NHS Trust, London, UK., De Meirleir L; Department of Pediatric Neurology and Metabolic Diseases, UZ Brussel, Brussels, Belgium., Di Rocco M; Unit of Rare Diseases, Department of Pediatrics, IRCCS Giannina Gaslini, Genova, Italy., Fathalla WM; Division of Paediatric Neurology, Department of Paediatrics, Mafraq Hospital, Abu Dhabi, UAE., Guffon N; Reference Centre of Metabolic Diseases, HFME Hospital, Bron, France., Lampe C; Children's Hospital, University Medical Center, Johannes Gutenberg University, Mainz, Germany., Lund AM; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Scarpa M; Department of Pediatrics, University of Padova, Padova, Italy., Tylki-Szymańska A; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland., Zeman J; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic. |
| Source: | Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2018 Dec; Vol. 107 (12), pp. 2059-2065. Date of Electronic Publication: 2018 Oct 23. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Review |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: Norway NLM ID: 9205968 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1651-2227 (Electronic) Linking ISSN: 08035253 NLM ISO Abbreviation: Acta Paediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1651-2227 |
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| DOI: | 10.1111/apa.14587 |
