Publications

March 22, 2021

Obsessive-Compulsive Symptoms as a Manifestation of Homocystinuria

Froes, V.,1 Hugo, A.,2 Gamerio, Z.1 Author Information

March 10, 2021

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

Morrison, T., Bosch, F., Landolt, M..A., Kozich, V., Huemer, M., Morris, A.

September 22, 2020

Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria

Park, I.,1 Bublil, E.M.,2 Galvin, F.,2 Majtan.,1

January 30, 2020

A Proactive Genotype-to-Patient-Phenotype Map for Cystathionine Beta-Synthase

Sun, S., Weile, J., Verby, M. et al. 

April 11, 2019

Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial

Van Hove, JLKFreehauf, CLFicicioglu, C, et al.

January 31, 2018

Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria 

Charles Q Li,1,* Bruce A Barshop,2 Annette Feigenbaum,2 and Paritosh C Khanna3

December 2017

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria

Majtan T. et al.

March 3, 2017

Oxidative Stress in Homocystinuria Due to Cystathionine ß-Synthase Deficiency: Findings in Patients and in Animal Models

Faverzani, J.L., Hammerschmidt, T.G., Sitta, A. et al.