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A mouse model of free sialic acid storage disorder: Hypomyelinating leukodystrophy and Purkinje cell degeneration.

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Title: A mouse model of free sialic acid storage disorder: Hypomyelinating leukodystrophy and Purkinje cell degeneration.
Authors: Hackbarth ME; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; University of Maryland School of Medicine, Baltimore, MD, USA., Hossain MS; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sabir MS; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA., Leoyklang P; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Dorward H; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Burke JD; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Elliot G; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Garrett L; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Zerfas P; Diagnostic and Research Services Branch, Office of Research Services, National Institutes of Health, Bethesda, MD, 20892, USA., Springer DA; Murine Phenotyping Core, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA., Pollard L; Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, USA., Wincovitch S; Advanced Imaging & Analysis Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA., Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Gahl WA; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Malicdan MCV; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
Source: Disease models & mechanisms [Dis Model Mech] 2026 May 26. Date of Electronic Publication: 2026 May 26.
Publication Type: Journal Article
Journal Info: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE
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  Data: A mouse model of free sialic acid storage disorder: Hypomyelinating leukodystrophy and Purkinje cell degeneration.
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  Data: <searchLink fieldCode="AU" term="%22Hackbarth+ME%22">Hackbarth ME</searchLink>; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; University of Maryland School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Hossain+MS%22">Hossain MS</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Sabir+MS%22">Sabir MS</searchLink>; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Leoyklang+P%22">Leoyklang P</searchLink>; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Dorward+H%22">Dorward H</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Burke+JD%22">Burke JD</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Elliot+G%22">Elliot G</searchLink>; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Garrett+L%22">Garrett L</searchLink>; Embryonic Stem Cell and Transgenic Mouse Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Zerfas+P%22">Zerfas P</searchLink>; Diagnostic and Research Services Branch, Office of Research Services, National Institutes of Health, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Springer+DA%22">Springer DA</searchLink>; Murine Phenotyping Core, National Heart, Lung and Blood Institute, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Pollard+L%22">Pollard L</searchLink>; Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, USA.<br /><searchLink fieldCode="AU" term="%22Wincovitch+S%22">Wincovitch S</searchLink>; Advanced Imaging & Analysis Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.<br /><searchLink fieldCode="AU" term="%22Huizing+M%22">Huizing M</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink>; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Malicdan+MCV%22">Malicdan MCV</searchLink>; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
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              Text: 2026 May 26
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