Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
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| Title: | Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. |
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| Authors: | Touw CM; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Centre of Groningen, PO Box 30 001, CA84, 9700 RB, Groningen, The Netherlands. n.touw@umcg.nl, Smit GP, de Vries M, de Klerk JB, Bosch AM, Visser G, Mulder MF, Rubio-Gozalbo ME, Elvers B, Niezen-Koning KE, Wanders RJ, Waterham HR, Reijngoud DJ, Derks TG |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2012 May 25; Vol. 7, pp. 30. Date of Electronic Publication: 2012 May 25. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 22630369 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Touw+CM%22">Touw CM</searchLink>; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Centre of Groningen, PO Box 30 001, CA84, 9700 RB, Groningen, The Netherlands. n.touw@umcg.nl<br /><searchLink fieldCode="AU" term="%22Smit+GP%22">Smit GP</searchLink><br /><searchLink fieldCode="AU" term="%22de+Vries+M%22">de Vries M</searchLink><br /><searchLink fieldCode="AU" term="%22de+Klerk+JB%22">de Klerk JB</searchLink><br /><searchLink fieldCode="AU" term="%22Bosch+AM%22">Bosch AM</searchLink><br /><searchLink fieldCode="AU" term="%22Visser+G%22">Visser G</searchLink><br /><searchLink fieldCode="AU" term="%22Mulder+MF%22">Mulder MF</searchLink><br /><searchLink fieldCode="AU" term="%22Rubio-Gozalbo+ME%22">Rubio-Gozalbo ME</searchLink><br /><searchLink fieldCode="AU" term="%22Elvers+B%22">Elvers B</searchLink><br /><searchLink fieldCode="AU" term="%22Niezen-Koning+KE%22">Niezen-Koning KE</searchLink><br /><searchLink fieldCode="AU" term="%22Wanders+RJ%22">Wanders RJ</searchLink><br /><searchLink fieldCode="AU" term="%22Waterham+HR%22">Waterham HR</searchLink><br /><searchLink fieldCode="AU" term="%22Reijngoud+DJ%22">Reijngoud DJ</searchLink><br /><searchLink fieldCode="AU" term="%22Derks+TG%22">Derks TG</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2012 May 25; Vol. 7, pp. 30. <i>Date of Electronic Publication: </i>2012 May 25. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=22630369 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/1750-1172-7-30 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 30 Titles: – TitleFull: Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Touw CM – PersonEntity: Name: NameFull: Smit GP – PersonEntity: Name: NameFull: de Vries M – PersonEntity: Name: NameFull: de Klerk JB – PersonEntity: Name: NameFull: Bosch AM – PersonEntity: Name: NameFull: Visser G – PersonEntity: Name: NameFull: Mulder MF – PersonEntity: Name: NameFull: Rubio-Gozalbo ME – PersonEntity: Name: NameFull: Elvers B – PersonEntity: Name: NameFull: Niezen-Koning KE – PersonEntity: Name: NameFull: Wanders RJ – PersonEntity: Name: NameFull: Waterham HR – PersonEntity: Name: NameFull: Reijngoud DJ – PersonEntity: Name: NameFull: Derks TG IsPartOfRelationships: – BibEntity: Dates: – D: 25 M: 05 Text: 2012 May 25 Type: published Y: 2012 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 7 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
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