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The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.

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Title: The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Authors: Gleason AM; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., D'Souza A; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Ryan E; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Grochowsky AR; Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Carter CR; Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, Virginia, USA., Lopez G; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Tayebi N; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Sidransky E; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1783-1791. Date of Electronic Publication: 2023 Apr 12.
Publication Type: Journal Article; Research Support, N.I.H., Intramural
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: The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
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  Data: <searchLink fieldCode="AU" term="%22Gleason+AM%22">Gleason AM</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22D'Souza+A%22">D'Souza A</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Ryan+E%22">Ryan E</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Grochowsky+AR%22">Grochowsky AR</searchLink>; Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Carter+CR%22">Carter CR</searchLink>; Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.<br /><searchLink fieldCode="AU" term="%22Goker-Alpan+O%22">Goker-Alpan O</searchLink>; Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Lopez+G%22">Lopez G</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Tayebi+N%22">Tayebi N</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Sidransky+E%22">Sidransky E</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, 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] 2023 Jul; Vol. 191 (7), pp. 1783-1791. <i>Date of Electronic Publication: </i>2023 Apr 12.
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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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        Value: 10.1002/ajmg.a.63202
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        Text: English
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      – TitleFull: The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
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            – D: 01
              M: 07
              Text: 2023 Jul
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              Y: 2023
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