ALLMedicine™ Homocystinuria Center

Jan 14th, 2021 - We report a patient with homocystinuria and hyperoxaluria who was cured of homocystinuria-related disease following liver transplant. The patient was diagnosed with homocystinuria as a newborn and was treated with dietary modifications and supplem...

Oct 22nd, 2020 - 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to characterize natural history, biological and molecular data, and response to treatment of patients with late-onset MTHFR...

Sep 18th, 2020 - To analyze the clinical characteristics of patients with hydrocephalus secondary to cobalamin C (cblC) deficiency and to discuss the optimal strategies for assessing and treating such patients by performing clinical and laboratory studies in 70 pa...

Sep 17th, 2020 - Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability a...

Aug 31st, 2020 - Deficiency in Cystathionine β-synthase (CBS) leads to an abnormal accumulation of homocysteine and results in classical homocystinuria, a multi-systemic disorder that affects connective tissue, muscles, the central nervous system, and the eyes. Ho...

Jan 14th, 2021 - We report a patient with homocystinuria and hyperoxaluria who was cured of homocystinuria-related disease following liver transplant. The patient was diagnosed with homocystinuria as a newborn and was treated with dietary modifications and supplem...

Oct 22nd, 2020 - 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency usually presents as a severe neonatal disease. This study aimed to characterize natural history, biological and molecular data, and response to treatment of patients with late-onset MTHFR...

Sep 18th, 2020 - To analyze the clinical characteristics of patients with hydrocephalus secondary to cobalamin C (cblC) deficiency and to discuss the optimal strategies for assessing and treating such patients by performing clinical and laboratory studies in 70 pa...

Sep 17th, 2020 - Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability a...

Aug 31st, 2020 - Deficiency in Cystathionine β-synthase (CBS) leads to an abnormal accumulation of homocysteine and results in classical homocystinuria, a multi-systemic disorder that affects connective tissue, muscles, the central nervous system, and the eyes. Ho...

Jan 8th, 2018 - HCU Network America and HCU Network Australia have announced a joint 2018 Call for Expressions of Interest for Research Grants to advance homocystinuria research toward diagnosis and treatment. Expressions of interest should be received no later t.

Dec 7th, 2017 - HCU Network America and HCU Network Australia have announced a joint 2018 Call for Expressions of Interest for Research Grants. January 15, 2018, is the deadline to respond to express interest.

Dec 7th, 2017 - As the leading advocacy organization for the 30 million Americans with rare diseases, NORD works closely with its more than 260 member organizations representing specific rare disease communities. The NORD board has approved five additional organi.

Oct 1st, 2016 - The deadline has been extended to October 21 to submit letters of intent and abstracts for National Organization for Rare Disorders (NORD) research grants for studies related to the following rare diseases: Alveolar capillary dysplasia with misali.

Sep 1st, 2016 - NORD has announced its 2016 requests for proposals for research studies related to the following rare diseases: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) Appendix cancer and pseudomyxoma peritonei (PMP) Autoim.