Otros Recursos Bibliográficos Homocistinuria

Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium.

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

J Inherit Metab Dis. 2021;44:677-692

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Morrison T, Bösch F, Landolt MA, Kožich V, Huemer M, Morris AAM.

Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.

Orphanet J Rare Dis. 2021 ;16:124.

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Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F; E-HOD consortium.

Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

J Inherit Metab Dis. 2021;44:677-692.

PDF

Liew SC, Gupta ED.

Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases.

Eur J Med Genet. 2015 ;58:1-10.

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