Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency

Author:

Lim J. S.,Lee D. H.

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology, Diabetes and Metabolism

Reference16 articles.

1. Picker JD, Levy HL. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency. 2004 Jan 15 [updated 2011 Apr 26]. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from http://www.ncbi.nlm.nih.gov/books/NBK1524/

2. Mudd SH, Skovby F, Levy HL, Pettigrew KD, Wilcken B, Pyeritz RE, Andria G, Boers GH, Bromberg IL, Cerone R (1985) The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 37:1–31

3. Yap S, Naughten E (1998) Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years’ experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J Inherit Metab Dis 21:738–747

4. Parrot F, Redonnet-Vernhet I, Lacombe D, Gin H (2000) Osteoporosis in late-diagnosed adult homocystinuric patients. J Inherit Metab Dis 23:338–340

5. Mulvihill A, Yap S, O’Keefe M, Howard PM, Naughten ER (2001) Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population. J AAPOS 5:311–315

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