Bone involvement in Fabry disease;Atteinte osseuse de la maladie de Fabry

Medecine/Sciences

Volumn 21, Issue SPEC. ISS. NOV., 2005, Pages 43-44

  Germain, Dominique P ^a   Benistan, Karelle ^a   Khatchikian, Lilit ^a   Mutschler, Céline ^b  

^a Unité de Génétique Clinique   (France)

^b HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GALACTOSIDASE; HYDROLASE;

BONE DENSITY; BONE DISEASE; BONE MINERAL; CONFERENCE PAPER; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DUAL ENERGY X RAY ABSORPTIOMETRY; ENZYME DEFECT; FABRY DISEASE; HIGH RISK PATIENT; HUMAN; INBORN ERROR OF METABOLISM; LUMBAR SPINE; OSTEOPENIA; OSTEOPOROSIS; X CHROMOSOME LINKED DISORDER;

EID: 29944432115     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/20052111s43     Document Type: Conference Paper

References (7)

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3. Kanis JA. Assessment of fracture risk and its application to screening for postmenopausal osteoporosis: synopsis of a WHO report. WHO Study Group. Osteoporos Int 1994; 4: 368-81.
4. Germain DP, Benistan K, Boutouyrie P, et al. Osteopenia and osteoporosis: previously unrecognized symptoms of Fabry disease. Clin Genet 2005; 68: 93-5.
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6. Farhat G, Vamout B, Mikati MA, et al. Effect of antiepileptic drugs on bone density in ambulatory patients. Neurology 2002; 58: 1348-53.
7. Horiuchi H, Saito N, Kobayashi S, et al. Avascular necrosis of the femoral head in a patient with Fabry's disease: identification of ceramide trihexoside in the bone by delayed-extraction matrix-assisted laser desorption ionization-time-of-flight mass spectrometry. Arthritis Rheum 2002; 46: 1922-5.