Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization

Author:

Voskoboeva Elena,Semyachkina Alla,Yablonskaya Maria,Nikolaeva Ekaterina

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference21 articles.

1. Disorders of Transsulfuration;Mudd,2009

2. Cystathionine β-synthase deficiency: of mice and men;Kruger;Mol. Genet. Metab.,2017

3. The clinical and genetic aspects and pathogenic mechanisms of classical homocystinuria;Semyachkina;Rossiyskiy Vestnik Perinatologii I Pediatrii,2013

4. Vascular presentation of cystathionine beta-synthase deficiency in adulthood;Magner;J. Inherit. Metab. Dis.,2011

5. The natural history of homocystinuria due to cystathionine beta-synthase deficiency;Mudd;Am. J. Hum. Genet.,1985

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