Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
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| Title: | Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. |
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| Authors: | Kiparissi F; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Dastamani A; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Palm L; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Azabdaftari A; Translational Gastroenterology Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK., Campos L; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Gaynor E; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Grünewald S; Department of Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Uhlig HH; Translational Gastroenterology Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.; Department of Paediatrics and Biomedical Research Centre, University of Oxford, Oxford, UK., Kleta R; Department of Renal Medicine, University College London, London, UK.; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Böckenhauer D; Department of Renal Medicine, University College London, London, UK.; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Jones KDJ; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. kelsey.jones@gosh.nhs.uk.; The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Sciences, University of Oxford, Oxford, UK. kelsey.jones@gosh.nhs.uk. |
| Source: | Human genetics [Hum Genet] 2023 May; Vol. 142 (5), pp. 697-704. Date of Electronic Publication: 2023 Feb 11. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36773065 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kiparissi+F%22">Kiparissi F</searchLink>; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Dastamani+A%22">Dastamani A</searchLink>; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Palm+L%22">Palm L</searchLink>; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Azabdaftari+A%22">Azabdaftari A</searchLink>; Translational Gastroenterology Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Campos+L%22">Campos L</searchLink>; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Gaynor+E%22">Gaynor E</searchLink>; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Grünewald+S%22">Grünewald S</searchLink>; Department of Metabolic Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Uhlig+HH%22">Uhlig HH</searchLink>; Translational Gastroenterology Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.; Department of Paediatrics and Biomedical Research Centre, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Kleta+R%22">Kleta R</searchLink>; Department of Renal Medicine, University College London, London, UK.; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Böckenhauer+D%22">Böckenhauer D</searchLink>; Department of Renal Medicine, University College London, London, UK.; Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Jones+KDJ%22">Jones KDJ</searchLink>; Department of Paediatric Gastroenterology & Nutrition, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. kelsey.jones@gosh.nhs.uk.; The Kennedy Institute of Rheumatology, Nuffield Department of Orthopaedics, Rheumatology, and Musculoskeletal Sciences, University of Oxford, Oxford, UK. kelsey.jones@gosh.nhs.uk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2023 May; Vol. 142 (5), pp. 697-704. <i>Date of Electronic Publication: </i>2023 Feb 11. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36773065 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-023-02523-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 697 Titles: – TitleFull: Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kiparissi F – PersonEntity: Name: NameFull: Dastamani A – PersonEntity: Name: NameFull: Palm L – PersonEntity: Name: NameFull: Azabdaftari A – PersonEntity: Name: NameFull: Campos L – PersonEntity: Name: NameFull: Gaynor E – PersonEntity: Name: NameFull: Grünewald S – PersonEntity: Name: NameFull: Uhlig HH – PersonEntity: Name: NameFull: Kleta R – PersonEntity: Name: NameFull: Böckenhauer D – PersonEntity: Name: NameFull: Jones KDJ IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2023 May Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1432-1203 Numbering: – Type: volume Value: 142 – Type: issue Value: 5 Titles: – TitleFull: Human genetics Type: main |
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