Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2014 Jul;62(7):835.
doi: 10.4103/0301-4738.138637.

Varied phenotype of homocystinuria: possible diagnostic error

Affiliations
Comment

Varied phenotype of homocystinuria: possible diagnostic error

Sufin Yap. Indian J Ophthalmol. 2014 Jul.
No abstract available

PubMed Disclaimer

Comment in

Comment on

References

    1. Kaliaperumal S, Kumar KP. Bhuvaneshwari. Varied phenotypic presentations of Homocystinuria in two siblings. Indian J Ophthalmol. 2014;62:93–4. - PMC - PubMed
    1. Mudd SH, Levy HL, Kraus JP. Disorders of transsulfuration. In: Scriver CR, Baeudet AL, Sly WS, Valle D, Childs B, Kinzler KW, et al., editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. pp. 2007–54.
    1. 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
    1. 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