V. Kožich

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

R. Artuch, À. García‐Cazorla, B. Pérez-Dueñas, 2010, Clinical genetics.

Di- and trihydroxycholestanaemia in twin sisters

R. Wanders, R. Schutgens, M. Casteels, 1991, Journal of Inherited Metabolic Disease.

Novel polymorphic AluYb 8 insertion in the WNK 1 gene is associated with blood pressure variation in Europeans Running title : Polymorphic AluYb 8 in WNK 1

E. Khusnutdinova, D. Comas, N. Tõnisson, 2015 .

Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 de199

D. Elleder, J. Kraus, M. Orendác, 1997, Journal of Inherited Metabolic Disease.

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

T. Suormala, L. Vilarinho, M. Pineda, 2003, Journal of Inherited Metabolic Disease.

Is the common 844ins68 polymorphism in the cystathionine β-synthase gene associated with atherosclerosis?

J. Zvárová, J. Kraus, M. Štefek, 1999, Journal of Inherited Metabolic Disease.

Homocystinuria due to cystathionine β‐synthase deficiency: Novel biochemical findings and treatment efficacy

J. Zeman, O. Bodamer, O. Bodamer, 2003 .

Newborn screening for homocystinurias: recent recommendations versus current practice

M. Baumgartner, H. Blom, A. Ribes, 2018, Journal of Inherited Metabolic Disease.