International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Saved in:
| Title: | International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. |
|---|---|
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| FullText | Links: – Type: pdflink Text: Availability: 1 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 30242902 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Parini+R%22">Parini R</searchLink>; Rare Metabolic Diseases Unit, Paediatric Clinic, MBBM Foundation, San Gerardo University Hospital, Monza, Italy.; TIGET Institute, IRCCS San Raffaele Hospital, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Broomfield+A%22">Broomfield A</searchLink>; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Cleary+MA%22">Cleary MA</searchLink>; Metabolic Unit, Great Ormond Street Hospital NHS Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22De+Meirleir+L%22">De Meirleir L</searchLink>; Department of Pediatric Neurology and Metabolic Diseases, UZ Brussel, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Di+Rocco+M%22">Di Rocco M</searchLink>; Unit of Rare Diseases, Department of Pediatrics, IRCCS Giannina Gaslini, Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Fathalla+WM%22">Fathalla WM</searchLink>; Division of Paediatric Neurology, Department of Paediatrics, Mafraq Hospital, Abu Dhabi, UAE.<br /><searchLink fieldCode="AU" term="%22Guffon+N%22">Guffon N</searchLink>; Reference Centre of Metabolic Diseases, HFME Hospital, Bron, France.<br /><searchLink fieldCode="AU" term="%22Lampe+C%22">Lampe C</searchLink>; Children's Hospital, University Medical Center, Johannes Gutenberg University, Mainz, Germany.<br /><searchLink fieldCode="AU" term="%22Lund+AM%22">Lund AM</searchLink>; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Scarpa+M%22">Scarpa M</searchLink>; Department of Pediatrics, University of Padova, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Tylki-Szymańska+A%22">Tylki-Szymańska A</searchLink>; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Zeman+J%22">Zeman J</searchLink>; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229205968%22">Acta paediatrica (Oslo, Norway : 1992)</searchLink> [Acta Paediatr] 2018 Dec; Vol. 107 (12), pp. 2059-2065. <i>Date of Electronic Publication: </i>2018 Oct 23. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't; Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>Norway <i>NLM ID: </i>9205968 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1651-2227 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208035253%22">08035253 </searchLink><i>NLM ISO Abbreviation: </i>Acta Paediatr <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30242902 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/apa.14587 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2059 Titles: – TitleFull: International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Parini R – PersonEntity: Name: NameFull: Broomfield A – PersonEntity: Name: NameFull: Cleary MA – PersonEntity: Name: NameFull: De Meirleir L – PersonEntity: Name: NameFull: Di Rocco M – PersonEntity: Name: NameFull: Fathalla WM – PersonEntity: Name: NameFull: Guffon N – PersonEntity: Name: NameFull: Lampe C – PersonEntity: Name: NameFull: Lund AM – PersonEntity: Name: NameFull: Scarpa M – PersonEntity: Name: NameFull: Tylki-Szymańska A – PersonEntity: Name: NameFull: Zeman J IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2018 Dec Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 1651-2227 Numbering: – Type: volume Value: 107 – Type: issue Value: 12 Titles: – TitleFull: Acta paediatrica (Oslo, Norway : 1992) Type: main |
| ResultId | 1 |