Classical familial homocystinuria in an adult presenting as an isolated lens subluxation
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E. López-Tizón | E. Mencía-Gutiérrez | E. Gutiérrez-Díaz | J. Martínez-Gutiérrez | T. Gracia-García-Miguel
[1] M. Gaustadnes,et al. A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. , 2010, Molecular genetics and metabolism.
[2] V. Kožich,et al. Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene , 2009, The Journal of pediatrics.
[3] D. Hannequin,et al. Infarctus cérébral et iridodonésis révélant une homocystinurie par mutation hétérozygote composite de la cystathionine bêta-synthase , 2008 .
[4] D. Hannequin,et al. [Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]. , 2008, Revue neurologique.
[5] D. Niu,et al. Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening. , 2007, Journal of the Chinese Medical Association : JCMA.
[6] M. Martínez-Pardo,et al. The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America , 2007, Journal of Human Genetics.
[7] M. Martínez-Pardo,et al. The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America , 2006, Journal of Human Genetics.
[8] Dong Hwan Lee,et al. Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria , 2005, Journal of Human Genetics.
[9] Fareena Bilwani,et al. Familial homocystinuria. , 2005, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP.
[10] P. Ueland,et al. Birth prevalence of homocystinuria. , 2004, The Journal of pediatrics.
[11] M. De Lucca,et al. Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6. , 2004, Molecular genetics and metabolism.
[12] S. Yap. Classical homocystinuria: Vascular risk and its prevention , 2003, Journal of Inherited Metabolic Disease.
[13] L. Elsas,et al. Cystathionine β‐synthase deficiency in Georgia (USA): Correlation of clinical and biochemical phenotype with genotype , 2003, Human mutation.
[14] R. Green,et al. Update on cobalamin, folate, and homocysteine. , 2003, Hematology. American Society of Hematology. Education Program.
[15] M. Gaustadnes,et al. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine β‐synthase (CBS) mutations , 2002, Human mutation.
[16] J. Terwilliger,et al. Cystathionine beta‐synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles , 2001, Human mutation.
[17] M. O'Keefe,et al. Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population. , 2001, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.
[18] J. Cruysberg,et al. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients , 1996, BMJ.
[19] H. Blom,et al. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. , 1996, The Journal of clinical investigation.
[20] D. McConnell,et al. High frequency (71%) of cystathionine β‐synthase mutation G307S in Irish homocystinuria patients , 1995 .
[21] U. Francke,et al. The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. , 1988, American journal of human genetics.
[22] K. Pettigrew,et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. , 1985, American journal of human genetics.
[23] A. Grieco. Homocystinuria: pathogenetic mechanisms. , 1977, The American journal of the medical sciences.