Varied phenotype of homocystinuria: possible diagnostic error
- PMID: 25116789
- PMCID: PMC4152666
- DOI: 10.4103/0301-4738.138637
Varied phenotype of homocystinuria: possible diagnostic error
Comment in
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Authors' reply: Comment to varied phenotype of Homocystinuria: possible diagnostic error.Indian J Ophthalmol. 2014 Aug;62(8):897. doi: 10.4103/0301-4738.141074. Indian J Ophthalmol. 2014. PMID: 25360472 Free PMC article. No abstract available.
Comment on
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Varied phenotypic presentations of homocystinuria in two siblings.Indian J Ophthalmol. 2014 Jan;62(1):93-4. doi: 10.4103/0301-4738.126190. Indian J Ophthalmol. 2014. PMID: 24492508 Free PMC article. No abstract available.
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- Yap S, Naughten E. Homocystinuria due to cystathionine β-synthase deficiency in Ireland: 25 years’ experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. [Last accessed on 2014 Mar 04];J Inher Metab Dis. 1998 21:738–47. Available from: http://dx.doi.org/10.1023/A:1005445132327 . - PubMed
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- Mulvihill A, Yap S, O’Keefe M, Howard PM, Naughten ER. Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well controlled population. J AAPOS. 2001;5:311–5. - PubMed
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