Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease
- Author
- OPPENHEIM, Ian M1 ; CANON, Astrid Medina2 ; BARCENAS, William3 ; GRODEN, Catherine1 ; GOKER-ALPAN, Ozlem1 ; RESNIK, Charles S4 ; SIDRANSKY, Ellen1
[1] Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1A213, 35 Convent Drive, MSC 3708, Bethesda, MD 20892-3708, United States
[2] Hospital Infantil de San Jose, Fundación Cardioinfantil, Bogotá, Colombia
[3] Barranquilla Seguro Social, Barranquilla, Colombia
[4] Department of Diagnostic Radiology, University of Maryland School of Medicine, Baltimore, MD, United States - Source
Skeletal radiology. 2011, Vol 40, Num 12, pp 1611-1615, 5 p ; ref : 9 ref
- CODEN
- SKRADI
- ISSN
- 0364-2348
- Scientific domain
- Imagery; Orthopedics traumatology
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Gaucher cells Genotype L444P/L444P Glucocerebrosidase Osteolytic Type 3 Gaucher disease
- Keyword (fr)
- Bilatéral Génotype Homme Lipide Lésion Médecine nucléaire Orthopédie Sphingolipidose héréditaire de Gaucher Typage Enzymopathie Exploration microbiologique Lipoïdose Maladie héréditaire Maladie métabolique Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux
- Keyword (en)
- Bilateral Genotype Human Lipids Lesion Nuclear medicine Orthopedics Gaucher disease Typing Enzymopathy Microbiological investigation Lipoidosis Genetic disease Metabolic diseases Cerebral disorder Central nervous system disease Nervous system diseases
- Keyword (es)
- Bilateral Genotipo Hombre Lípido Lesión Medicina nuclear Ortopedia Esfingolipidosis hereditaria Gaucher Tipificación Enzimopatía Análisis microbiológico Lipoidosis Enfermedad hereditaria Metabolismo patología Encéfalo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B24 Investigative techniques, diagnostic techniques (general aspects) / 002B24A Radiodiagnosis. Nmr imagery. Nmr spectrometry / 002B24A07 Osteoarticular system. Muscles
- Discipline
- Metabolic diseases Scanning and diagnostic techniques
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24719037
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s00256-011-1260-x 
https://dx.doi.org/10.1007/s00256-011-1260-x
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