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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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