Birth prevalence of homocystinuria
- 30 June 2004
- journal article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 144 (6) , 830-832
- https://doi.org/10.1016/j.jpeds.2004.03.004
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- The molecular basis of cystathionine ?-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatmentHuman Mutation, 2002
- Vascular Outcome in Patients With Homocystinuria due to Cystathionine β-Synthase Deficiency Treated ChronicallyArteriosclerosis, Thrombosis, and Vascular Biology, 2001
- Recent developments in high-throughput mutation screeningPharmacogenomics, 2001
- PRINCIPLES OF SCREENINGMedical Clinics of North America, 1999
- Four Common Mutations of the Cystathionine β-Synthase Gene Detected by Multiplex PCR and Matrix-assisted Laser Desorption/Ionization Time-of-Flight Mass SpectrometryClinical Chemistry, 1999
- Cystathionine ?-synthase mutations in homocystinuriaHuman Mutation, 1999
- Prevalence of Congenital Homocystinuria in DenmarkNew England Journal of Medicine, 1999
- 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 controlJournal of Inherited Metabolic Disease, 1998
- Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuriaHuman Molecular Genetics, 1997