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. |
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| 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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| ISSN: | 2192-8304 |
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| DOI: | 10.1002/jmd2.70029 |
