Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.

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Title: Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder.
Authors: Sabir MS; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; NIH Oxford-Cambridge Scholars Program, University of Oxford, Oxford, UK., Dobrenis K; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, USA., Rha AK; Research Institute, Children's Hospital of Orange County, Orange, CA, USA., Pollard L; Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC, USA., Leoyklang P; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Marrero M; Dominick P. Purpura Department of Neuroscience, Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, Bronx, NY, USA., Ciccone C; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Hackbarth ME; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Huizing M; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Wang RY; Division of Metabolic Disorders, Children's Hospital of Orange County Specialists, Orange, CA, USA.; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA, USA., Gahl WA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Platt FM; Department of Pharmacology, University of Oxford, Oxford, UK., Malicdan MCV; UDP Translational Laboratory, NIH Undiagnosed Diseases Program, National Human Genome Research Institute, 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.
Source: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2025 Nov 08; Vol. 45, pp. 101275. Date of Electronic Publication: 2025 Nov 08 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2214-4269
DOI:10.1016/j.ymgmr.2025.101275