N. Matthew Ellinwood

National MPS Society — United States

Medicine · Health Sciences

26h-index2.3kcitations122works5.32yr avg
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Research Topics

Lysosomal Storage Disorders Research(49), Glycogen Storage Diseases and Myoclonus(19), Glaucoma and retinal disorders(17), Virus-based gene therapy research(14), Trypanosoma species research and implications(12)

Publications122 total

Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis II: Results from an international modified Delphi consensus
Molecular Genetics and Metabolism·2025
Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis type II: Results from an international modified Delphi consensus
Molecular Genetics and Metabolism·2025
Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses
Molecular Genetics and Metabolism·2024· 16 citedOpen Access
Intra-Articular AAV9 α-l-Iduronidase Gene Replacement in the Canine Model of Mucopolysaccharidosis Type I
Advances in Cell and Gene Therapy·2023· 1 citedOpen Access
Clinical and pathological characterization of ophthalmic disease in a canine model of mucopolysaccharidosis type I
Journal of Inherited Metabolic Disease·2023Open Access
Differential Transcriptomic Profiles Following Stimulation with Lipopolysaccharide in Intestinal Organoids from Dogs with Inflammatory Bowel Disease and Intestinal Mast Cell Tumor
Cancers·2022· 45 citedOpen Access
Tralesinidase Alfa Enzyme Replacement Therapy Prevents Disease Manifestations in a Canine Model of Mucopolysaccharidosis Type IIIB
Journal of Pharmacology and Experimental Therapeutics·2022· 5 citedOpen Access
Differential transcriptomic profiles following stimulation with lipopolysaccharide in intestinal organoids from dogs with inflammatory bowel disease and intestinal mast cell tumor
Zenodo (CERN European Organization for Nuclear Research)·2022· 1 citedOpen Access
Newborn screening and the recommended uniform screening panel: Optimal submissions and suggested improvements based on an advocacy organization's decade‐long experience
American Journal of Medical Genetics Part C Seminars in Medical Genetics·2022· 6 cited
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
Molecular Genetics and Metabolism Reports·2022· 12 citedOpen Access
Timing is everything in Hunter syndrome: Differential clinical courses associated with age at initiation of therapy in a sibling pair
Molecular Genetics and Metabolism·2022
A Hunter syndrome sibling pair: Differential effects of age at initiation of enzyme replacement therapy on growth, orthopedic disease, and daily living skills
Molecular Genetics and Metabolism·2022
Evaluation of neurofilament light chain as a biomarker for mucopolysaccharidosis type IIIB
Molecular Genetics and Metabolism·2022
Patient and physician perspectives inform clinical trial design for a single intravenous dose of HMI-203, a gene therapy candidate for adults with mucopolysaccharidosis type II (MPS II, Hunter syndrome)
Molecular Genetics and Metabolism·2022
Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
2021· 2 citedOpen Access
Recombinant NAGLU-IGF2 prevents physical and neurological disease and improves survival in Sanfilippo B syndrome
2021· 1 citedOpen Access
Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses
Molecular Genetics and Metabolism·2021· 4 citedOpen Access
Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits
Scientific Reports·2021· 7 citedOpen Access
Treatment with pentosan polysulfate improves neuropathological measures in the canine model of MPS IIIB
Molecular Genetics and Metabolism·2021· 1 cited
The Mucolipidosis Collaborative Research Network (MCRN)
Molecular Genetics and Metabolism·2021
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Frequent Co-authors

Mark E. Haskins(14), Elizabeth Snella(12), Jackie K. Jens(11), Patricia Dickson(11), Charles H. Vite(9), Katherine P. Ponder(8), Steven Q. Le(7), Thomas O’Malley(6), Gillian J. McLellan(6), John R. Melniczek(5), Michael F. McEntee(5), Merry Passage(5), Lingfei Xu(4), Margaret A. Weil(4), Patricia A. O’Donnell(4), Shih‐hsin Kan(4), Julie A. Kiland(4), Raymond Wang(4), Van W. Knox(3), Hamutal Mazrier(3)