| Title |
Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency
|
|---|---|
| Published in |
Osteoporosis International, May 2013
|
| DOI | 10.1007/s00198-013-2351-4 |
| Pubmed ID | |
| Authors |
J. S. Lim, D. H. Lee |
| Abstract |
Homocystinuria due to cystathionine β-synthase (CBS) deficiency is an inherited disorder of the metabolism of methionine. Clinical manifestations include mental retardation, dislocation of the optic lens, vascular lesions, arterial and venous thromboembolism, skeletal abnormalities, and osteoporosis. Most homocystinuria patients diagnosed in adulthood have severe osteoporosis, and homocystinuria is frequently mentioned as a cause of osteoporosis. Good control of plasma homocysteine may prevent or delay some of these complications. However, the effectiveness of bone mineral density (BMD) gain or fracture prevention has not been addressed. Here, we describe changes in BMD and body composition in 5 CBS deficiency patients who were diagnosed at young age and were managed with good metabolic control. We found that the BMD of each region was within the normal range. BMD gain was adequate and the patients had no significant change in skeletal morphology. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Science communicators (journalists, bloggers, editors) | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 4% |
| Ireland | 1 | 4% |
| Unknown | 26 | 93% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 6 | 21% |
| Student > Bachelor | 5 | 18% |
| Other | 4 | 14% |
| Researcher | 4 | 14% |
| Student > Postgraduate | 3 | 11% |
| Other | 2 | 7% |
| Unknown | 4 | 14% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 39% |
| Biochemistry, Genetics and Molecular Biology | 5 | 18% |
| Neuroscience | 2 | 7% |
| Psychology | 2 | 7% |
| Mathematics | 1 | 4% |
| Other | 2 | 7% |
| Unknown | 5 | 18% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 15 August 2013.
All research outputs
#18,347,414
of 22,721,584 outputs
Outputs from Osteoporosis International
#2,714
of 3,601 outputs
Outputs of similar age
#147,711
of 196,562 outputs
Outputs of similar age from Osteoporosis International
#27
of 40 outputs
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