Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1).
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Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1). / Tucker, T; Schnabel, Claudia; Hartmann, M; Friedrich, Reinhard; Frieling, I; Kruse, H-P; Mautner, Viktor Felix; Friedman, J M.
In: J MED GENET, Vol. 46, No. 4, 4, 2009, p. 259-265.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1).
AU - Tucker, T
AU - Schnabel, Claudia
AU - Hartmann, M
AU - Friedrich, Reinhard
AU - Frieling, I
AU - Kruse, H-P
AU - Mautner, Viktor Felix
AU - Friedman, J M
PY - 2009
Y1 - 2009
N2 - BACKGROUND: Patients with neurofibromatosis 1 (NF1) are shorter than expected and often have low bone mineral density (BMD), but the pathogenesis of these bony problems is poorly understood. METHODS: We performed an exploratory study of BMD, 18 laboratory measures of bone metabolism, and fracture history in 72 adult NF1 patients. RESULTS: Eight of the 18 clinical biochemical measures of bone health had at least 10% of NF1 patients outside the standard reference range. Serum 25-hydroxy-vitamin D concentrations were low in 56% of the NF1 patients, serum parathyroid hormone (PTH) concentrations were high in 34%, and urine deoxypyridinoline cross-link concentrations were high in 50%. Mean serum 25-hydroxy-vitamin D concentrations were significantly lower in people with NF1 than in season matched controls in both summer (p = 0.008) and winter (p
AB - BACKGROUND: Patients with neurofibromatosis 1 (NF1) are shorter than expected and often have low bone mineral density (BMD), but the pathogenesis of these bony problems is poorly understood. METHODS: We performed an exploratory study of BMD, 18 laboratory measures of bone metabolism, and fracture history in 72 adult NF1 patients. RESULTS: Eight of the 18 clinical biochemical measures of bone health had at least 10% of NF1 patients outside the standard reference range. Serum 25-hydroxy-vitamin D concentrations were low in 56% of the NF1 patients, serum parathyroid hormone (PTH) concentrations were high in 34%, and urine deoxypyridinoline cross-link concentrations were high in 50%. Mean serum 25-hydroxy-vitamin D concentrations were significantly lower in people with NF1 than in season matched controls in both summer (p = 0.008) and winter (p
M3 - SCORING: Zeitschriftenaufsatz
VL - 46
SP - 259
EP - 265
JO - J MED GENET
JF - J MED GENET
SN - 0022-2593
IS - 4
M1 - 4
ER -
