Prolidase deficiency: A novel PEPD missense variant in exon 2.
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| Title: | Prolidase deficiency: A novel PEPD missense variant in exon 2. |
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| Authors: | Ido F; Department of Pulmonary and Critical Care, St. Luke's University Health Network, Bethlehem, Pennsylvania, USA., Tessier S; Lewis Katz School of Medicine, Temple University, Philadelphia, Pennsylvania, USA., Yoder N; Department of Pulmonary and Critical Care, St. Luke's University Health Network, Bethlehem, Pennsylvania, USA., Ramzy J; Department of Pulmonary and Critical Care, St. Luke's University Health Network, Bethlehem, Pennsylvania, USA., Longo S; Department of Pathology, St. Luke's University Health Network, Bethlehem, Pennsylvania, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1388-1394. Date of Electronic Publication: 2023 Feb 09. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36757671 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Prolidase deficiency: A novel PEPD missense variant in exon 2. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ido+F%22">Ido F</searchLink>; Department of Pulmonary and Critical Care, St. Luke's University Health Network, Bethlehem, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Tessier+S%22">Tessier S</searchLink>; Lewis Katz School of Medicine, Temple University, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Yoder+N%22">Yoder N</searchLink>; Department of Pulmonary and Critical Care, St. Luke's University Health Network, Bethlehem, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Ramzy+J%22">Ramzy J</searchLink>; Department of Pulmonary and Critical Care, St. Luke's University Health Network, Bethlehem, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Longo+S%22">Longo S</searchLink>; Department of Pathology, St. Luke's University Health Network, Bethlehem, Pennsylvania, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1388-1394. <i>Date of Electronic Publication: </i>2023 Feb 09. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – 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>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36757671 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.63137 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1388 Titles: – TitleFull: Prolidase deficiency: A novel PEPD missense variant in exon 2. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ido F – PersonEntity: Name: NameFull: Tessier S – PersonEntity: Name: NameFull: Yoder N – PersonEntity: Name: NameFull: Ramzy J – PersonEntity: Name: NameFull: Longo S IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2023 May Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 191 – Type: issue Value: 5 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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