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D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.

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Title: D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Authors: Werner KM; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Cox AJ; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; PreventionGenetics LLC, Marshfield, Wisconsin, USA., Qian E; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Jain P; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Sema4, Stanford, CT, USA., Ji W; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Tikhonova I; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Castaldi C; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Bilguvar K; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Knight J; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Ferdinandusse S; Department of Clinical Chemistry, Amsterdam UMC Locatie AMC, Amsterdam, Netherlands., Fawaz R; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Jiang YH; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Gallagher PG; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA., Bizzarro M; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Gruen JR; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Bale A; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Zhang H; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 357-363. Date of Electronic Publication: 2021 Oct 08.
Publication Type: Case Reports; Research Support, N.I.H., Extramural; 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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  Data: D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
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  Data: <searchLink fieldCode="AU" term="%22Werner+KM%22">Werner KM</searchLink>; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Cox+AJ%22">Cox AJ</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; PreventionGenetics LLC, Marshfield, Wisconsin, USA.<br /><searchLink fieldCode="AU" term="%22Qian+E%22">Qian E</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Jain+P%22">Jain P</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Sema4, Stanford, CT, USA.<br /><searchLink fieldCode="AU" term="%22Ji+W%22">Ji W</searchLink>; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Tikhonova+I%22">Tikhonova I</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Castaldi+C%22">Castaldi C</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Bilguvar+K%22">Bilguvar K</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Knight+J%22">Knight J</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Ferdinandusse+S%22">Ferdinandusse S</searchLink>; Department of Clinical Chemistry, Amsterdam UMC Locatie AMC, Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Fawaz+R%22">Fawaz R</searchLink>; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Jiang+YH%22">Jiang YH</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Gallagher+PG%22">Gallagher PG</searchLink>; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Bizzarro+M%22">Bizzarro M</searchLink>; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Gruen+JR%22">Gruen JR</searchLink>; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Bale+A%22">Bale A</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+H%22">Zhang H</searchLink>; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 357-363. <i>Date of Electronic Publication: </i>2021 Oct 08.
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  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
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