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Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria.

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Title: Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria.
Authors: Rossignol F; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Pan KS; Metabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA; Department of Plastic and Reconstructive Surgery, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Perry MB; Rehabilitation Medicine Department, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA., Bryant JC; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., O'Brien KJ; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Castillo IJ; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Spears KR; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Ferreira CR; Unit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Murphey MD; Department of Radiology, Walter Reed National Military Medical Center, Bethesda, MD 20814, USA; Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA; Musculoskeletal Imaging, ACR Institute for Radiologic Pathology, Silver Spring, MD 20910, USA., Minn MJ; Department of Radiology, Walter Reed National Military Medical Center, Bethesda, MD 20814, USA; Musculoskeletal Imaging, ACR Institute for Radiologic Pathology, Silver Spring, MD 20910, USA; Department of Radiology, Scripps Green Hospital, 10666 N. Torrey Pines Road, La Jolla, CA 92037, USA., Gahl WA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: wintrone@mail.nih.gov.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2025 Nov; Vol. 146 (3), pp. 109251. Date of Electronic Publication: 2025 Oct 02.
Publication Type: Journal Article
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Rossignol+F%22">Rossignol F</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Pan+KS%22">Pan KS</searchLink>; Metabolic Bone Disorders Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA; Department of Plastic and Reconstructive Surgery, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.<br /><searchLink fieldCode="AU" term="%22Perry+MB%22">Perry MB</searchLink>; Rehabilitation Medicine Department, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Bryant+JC%22">Bryant JC</searchLink>; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22O'Brien+KJ%22">O'Brien KJ</searchLink>; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Castillo+IJ%22">Castillo IJ</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Spears+KR%22">Spears KR</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Ferreira+CR%22">Ferreira CR</searchLink>; Unit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Murphey+MD%22">Murphey MD</searchLink>; Department of Radiology, Walter Reed National Military Medical Center, Bethesda, MD 20814, USA; Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA; Musculoskeletal Imaging, ACR Institute for Radiologic Pathology, Silver Spring, MD 20910, USA.<br /><searchLink fieldCode="AU" term="%22Minn+MJ%22">Minn MJ</searchLink>; Department of Radiology, Walter Reed National Military Medical Center, Bethesda, MD 20814, USA; Musculoskeletal Imaging, ACR Institute for Radiologic Pathology, Silver Spring, MD 20910, USA; Department of Radiology, Scripps Green Hospital, 10666 N. Torrey Pines Road, La Jolla, CA 92037, USA.<br /><searchLink fieldCode="AU" term="%22Gahl+WA%22">Gahl WA</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Introne+WJ%22">Introne WJ</searchLink>; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: wintrone@mail.nih.gov.
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              Text: 2025 Nov
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