September 2024
Mechanism of action and impact of thiol homeostasis on efficacy of an enzyme replacement therapy for classical homocystinuria
Philipp, T., Bottiglieri, T., Clapper, W., et al.
August 2023
Dental complications in homocystinurias
Chapman, K., Bartke, D., Vogel-Farley, V., et al.
August 2023
An orally administered enzyme therapeutic for homocystinuria that suppresses homocysteine by metabolizing methionine in the gastrointestinal tract
Skvorak, K, Mitchell, V., Teadt, L., et al.
September 16, 2021
Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy
Lee, H, Salami, C.,Sondhi, D et al.
May 2021
Cystathionine Beta-Synthase deficiency in E-HOD registry part 1: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
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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.,1 Forni, G.,1 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
, , , 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
, , , et al.
January 15, 2019
Revising the Psychiatric Phenotype of Homocystinuria.
Almuqbil MA1,2,3, Waisbren SE4, Levy HL4, Picker JD4,5.Author information
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.
