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The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.
Ferreira, Carlos R; Regier, Debra S; Yoon, Robin; Pan, Kristen S; Johnston, Jean M; Yang, Sandra; Spranger, Jürgen W; Tifft, Cynthia J.
Afiliación
  • Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America.
  • Regier DS; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America; Department of Genetics and Metabolism, Rare Disease Institute, Children's National Medical Center, Washington, DC, United States of America
  • Yoon R; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America.
  • Pan KS; Skeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
  • Johnston JM; Department of Genetics and Metabolism, Rare Disease Institute, Children's National Medical Center, Washington, DC, United States of America.
  • Yang S; Department of Genetics and Metabolism, Rare Disease Institute, Children's National Medical Center, Washington, DC, United States of America.
  • Spranger JW; Greenwood Genetic Center, Greenwood, SC, United States of America.
  • Tifft CJ; Department of Genetics and Metabolism, Rare Disease Institute, Children's National Medical Center, Washington, DC, United States of America. Electronic address: cynthiat@mail.nih.gov.
Bone ; 131: 115142, 2020 02.
Article en En | MEDLINE | ID: mdl-31704340
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Gangliosidosis GM1 Idioma: En Revista: Bone Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Gangliosidosis GM1 Idioma: En Revista: Bone Asunto de la revista: METABOLISMO / ORTOPEDIA Año: 2020 Tipo del documento: Article