Low bone mineral density is a common finding in patients with homocystinuria.
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ABSTRACT:
SUBMITTER: Weber DR
PROVIDER: S-EPMC4788514 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
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Low bone mineral density is a common finding in patients with homocystinuria.
Weber David R DR Coughlin Curtis C Brodsky Jill L JL Lindstrom Kristin K Ficicioglu Can C Kaplan Paige P Freehauf Cynthia L CL Levine Michael A MA
Molecular genetics and metabolism 20151210 3
Homocystinuria (HCU) due to deficiency of cystathionine beta-synthetase is associated with increased plasma levels of homocysteine and methionine and is characterized by developmental delay, intellectual impairment, ocular defects, thromboembolism and skeletal abnormalities. HCU has been associated with increased risk for osteoporosis in some studies, but the natural history of HCU-related bone disease is poorly understood. The objective of this study was to characterize bone mineral density (BM ...[more]
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