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Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.
Ramnitz, Mary Scott; Gourh, Pravitt; Goldbach-Mansky, Raphaela; Wodajo, Felasfa; Ichikawa, Shoji; Econs, Michael J; White, Kenneth E; Molinolo, Alfredo; Chen, Marcus Y; Heller, Theo; Del Rivero, Jaydira; Seo-Mayer, Patricia; Arabshahi, Bita; Jackson, Malaka B; Hatab, Sarah; McCarthy, Edward; Guthrie, Lori C; Brillante, Beth A; Gafni, Rachel I; Collins, Michael T.
Afiliação
  • Ramnitz MS; Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
  • Gourh P; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Goldbach-Mansky R; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Wodajo F; Musculoskeletal Tumor Surgery, Virginia Cancer Specialists, Fairfax, VA, USA.
  • Ichikawa S; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
  • Econs MJ; Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
  • White KE; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
  • Molinolo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
  • Chen MY; Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
  • Heller T; National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
  • Del Rivero J; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
  • Seo-Mayer P; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • Arabshahi B; Division of Nephrology and Hypertension, Pediatric Specialists of Virginia and Georgetown University School of Medicine, Fairfax, VA, USA.
  • Jackson MB; Department of Rheumatology, Pediatric Specialists of Virginia, Fairfax, VA, USA.
  • Hatab S; Department of Pediatric Endocrinology, University of South Carolina School of Medicine, Columbia, SC, USA.
  • McCarthy E; Department of Pediatric Endocrinology, Emory University School of Medicine, Atlanta, GA, USA.
  • Guthrie LC; Department of Pathology, Johns Hopkins Hospital, Baltimore, MD, USA.
  • Brillante BA; Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
  • Gafni RI; Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
  • Collins MT; Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
J Bone Miner Res ; 31(10): 1845-1854, 2016 10.
Article em En | MEDLINE | ID: mdl-27164190
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calcinose / Hiperostose / Hiperostose Cortical Congênita / N-Acetilgalactosaminiltransferases / Hiperfosfatemia / Fatores de Crescimento de Fibroblastos / Glucuronidase Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Calcinose / Hiperostose / Hiperostose Cortical Congênita / N-Acetilgalactosaminiltransferases / Hiperfosfatemia / Fatores de Crescimento de Fibroblastos / Glucuronidase Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: J Bone Miner Res Assunto da revista: METABOLISMO / ORTOPEDIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos