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. |
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| 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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