Publications

May 2021

Cystathionine Beta-Synthase deficiency in E-HOD registry part 1: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis. 

Kožich, VSokolová, JMorris, AAM, et al.

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.

November 2, 2020

Development of Strategies to Decrease False Positive Results in Newborn Screening

Malvagia, S., Forni, G.,Onbrone, D., S.,1 Marca, G.,1, 2 

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

February 5, 2020

Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?

Sellos-Moura, M., Galvin, F., Lapidus, D. et al. 

January 30, 2020

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

Sun, S., Weile, J., Verby, M. et al. 

January 08, 2020

Cystathinoine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

Schwahn, BCScheffner, TStepman, H, 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.

July 25, 2017

Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management

Tran, C., Bonafé, L., Nuoffer, J. M., Rieger, J., & Berger, M. M.

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.