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Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.

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Title: Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.
Authors: Sabir MS; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; NIH Oxford-Cambridge Scholars Program University of Oxford Oxford UK., Pollard L; Biochemical Genetics Laboratory Greenwood Genetic Center Greenwood South Carolina USA., Wolfe L; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA., Adams DR; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA., Ciccone C; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA., Leoyklang P; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA., Platt FM; Department of Pharmacology University of Oxford Oxford UK., Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA., Gahl WA; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA., Malicdan MCV; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.
Source: JIMD reports [JIMD Rep] 2025 Jun 16; Vol. 66 (4), pp. e70029. Date of Electronic Publication: 2025 Jun 16 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder.
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  Data: <searchLink fieldCode="AU" term="%22Sabir+MS%22">Sabir MS</searchLink>; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; NIH Oxford-Cambridge Scholars Program University of Oxford Oxford UK.<br /><searchLink fieldCode="AU" term="%22Pollard+L%22">Pollard L</searchLink>; Biochemical Genetics Laboratory Greenwood Genetic Center Greenwood South Carolina USA.<br /><searchLink fieldCode="AU" term="%22Wolfe+L%22">Wolfe L</searchLink>; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.<br /><searchLink fieldCode="AU" term="%22Adams+DR%22">Adams DR</searchLink>; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.<br /><searchLink fieldCode="AU" term="%22Ciccone+C%22">Ciccone C</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.<br /><searchLink fieldCode="AU" term="%22Leoyklang+P%22">Leoyklang P</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.<br /><searchLink fieldCode="AU" term="%22Platt+FM%22">Platt FM</searchLink>; Department of Pharmacology University of Oxford Oxford UK.<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 Maryland USA.<br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink>; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.<br /><searchLink fieldCode="AU" term="%22Malicdan+MCV%22">Malicdan MCV</searchLink>; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.
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  Data: <searchLink fieldCode="JN" term="%22101568557%22">JIMD reports</searchLink> [JIMD Rep] 2025 Jun 16; Vol. 66 (4), pp. e70029. <i>Date of Electronic Publication: </i>2025 Jun 16 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101568557 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2192-8304 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221928304%22">21928304 </searchLink><i>NLM ISO Abbreviation: </i>JIMD Rep <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2025 Jun 16
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