| 2019-July | Basic Science | Hoss, G., et al | Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they have in common? | Article |
| 2025-Jan | Registry | Morris, A., et al | Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological Treatment | Article |
| 2025-Mar | Health Care | Jain, M., Shah, M., et al | Impact of classical homocystinuria on health care resource utilization and costs in the United States: A retrospective cohort study | Article |
| 2025-Mar | Quality of Life | Pokrywinski, R., Bartke, D., et al | “My dream is to not have to be on a diet”: a qualitative study on burdens of classical homocystinuria (HCU) from the patient perspective | Article |
| 2025-Jan | Health Care | Jain, M., Shah, M., et al | High clinical burden of classical homocystinuria in the United States: a retrospective analysis | Article |
| 2025-Feb | Registry | Andrew Morris | Update on CBS Deficiency in the Ehod Registry | Article |
| 2024-Sept | Treatment | Philipp, T., et al | Mechanism of action and impact of thiol homeostasis on efficacy of an enzyme replacement therapy for classical homocystinuria | Article |
| 2024-Jun | Pregnancy | Murphey, K., Krishna I., Li, H. | Inborn errors of metabolism and pregnancy | Article |
| 2024-Jun | Symptoms | Kozich, V., et al | Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later? | Article |
| 2023-Aug | Dental | Chapman, K., et al | Dental complications in Homocystinurias | Article |
| 2023-Aug | Treatment | Skvorak, K., MItchell, V., et al | An orally administered enzyme therapeutic for homocystinuria that suppresses homocysteine by metabolizing methionine in the gastrointestinal tract | Article |
| 2021-Sept | Treatment | Lee, H., Salami, C., et al | Long-term functional correction of cystathionine B-synthase deficiency in mice by adeno-associated viral gene therapy | Article |
| 2021-Sept | Treatment | Lee, H., Salami, C., et al | Visual Abstract Presentation | |
| 2021-Sept | Treatment | Lee, H., Salami, C., et al | Podcast | |
| 2021-May | Registry | Kozich, V., et al | Cystathionine Beta-Synthase deficiency in E-HOD registry part 1: pyridoxine responsiveness as determinant of biochemical and clinical phenotype at diagnosis | Article |
| 2021-Mar | Symptoms | Froes, V., et al | Obsessive-Compulsive Symptoms as a Manifestation of Homocystinuria | Article |
| 2021-Mar | Registry | Morrison T., Bosch, F., et al | Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction | Article |
| 2020-Sept | Treatment | Park, I., Bublil, E.M., et al | Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria | Article |
| 2020-Nov | Newborn Screening | Malvagia, S., Forni, G., et al | Development of Strategies to Decrease False Positive Results in Newborn Screening | Article |
| 2020-Jan | Diagnosis | Sun, S., Weile, J., et al | A Proactive Gentype-to-Patient-Phenotype Map for Cystathionine Beta-Synthase | Article |
| 2020-Jan | Neurological | Schwahn, BC., et al | Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence | Article |
| 2020-Feb | Registry | Sellos-Moura, M., et al | Estimated prevalaence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria? | Article |
| 2019-Jan | Mental Health | Almuqbil, MA., et al | Revising the Psychiatric Phenotype of Homocystinuria | Article |
| 2019-Apr | Treatment | Van Hove, JLK., Freehauf, CL., et al | Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine B-synthase deficient homocystinuria and the ipact of taurine treatement in a phase 1/2 human clinical trial | Article |
| 2018-Jan | Neurological | Charles Q Li, Bruce Barshop, et al | Brain Magnetic Resonance Imagine Findings in Poorly Controlled Homocystinuria | Article |
| 2017-Mar | Symptoms | Faverzani, J.L., Hammerschmidt, T.G., et al | Oxidative Stress in Homocystinuria Due to Cystathionine B-Synthase Deficiency: Findings in Patients and in Animal Models | Article |
| 2017-July | Treatment | Tran, C., Bonafe, L., et al | Adult classical homocystinuria requring parenteral nutrition: Pitfalls and management | Article |
| 2017-Dec | Treatment | Majtan T., et al | Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria | Article |
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