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About 705 results

ALLMedicine™ Homocystinuria Center

Research & Reviews  345 results

Liver transplant as a curative treatment in a pediatric patient with classic homocystin...
https://doi.org/10.1002/ajmg.a.62076
American Journal of Medical Genetics. Part A REFERENCES; Kerkvliet SP, Rheault MN et. al.

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...

Clinical and molecular characterization of adult patients with late-onset MTHFR deficie...
https://doi.org/10.1002/jimd.12323
Journal of Inherited Metabolic Disease REFERENCES; Marelli C, Lavigne C et. al.

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...

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
https://doi.org/10.1212/WNL.0000000000010912
Neurology He R, Zhang H et. al.

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...

Ocular manifestations in classic homocystinuria.
https://doi.org/10.1080/13816810.2020.1821384
Ophthalmic Genetics; Gus PI, Donis KC et. al.

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...

Cystathionine β-synthase Deficiency Impairs Vision in the Fruit Fly, Drosophila melanog...
https://doi.org/10.1080/02713683.2020.1818262
Current Eye Research; Flores-Flores M, Moreno-García L et. al.

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...

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Drugs  2 results see all →

Clinicaltrials.gov  349 results

Liver transplant as a curative treatment in a pediatric patient with classic homocystin...
https://doi.org/10.1002/ajmg.a.62076
American Journal of Medical Genetics. Part A REFERENCES; Kerkvliet SP, Rheault MN et. al.

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...

Clinical and molecular characterization of adult patients with late-onset MTHFR deficie...
https://doi.org/10.1002/jimd.12323
Journal of Inherited Metabolic Disease REFERENCES; Marelli C, Lavigne C et. al.

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...

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.
https://doi.org/10.1212/WNL.0000000000010912
Neurology He R, Zhang H et. al.

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...

Ocular manifestations in classic homocystinuria.
https://doi.org/10.1080/13816810.2020.1821384
Ophthalmic Genetics; Gus PI, Donis KC et. al.

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...

Cystathionine β-synthase Deficiency Impairs Vision in the Fruit Fly, Drosophila melanog...
https://doi.org/10.1080/02713683.2020.1818262
Current Eye Research; Flores-Flores M, Moreno-García L et. al.

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...

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News  9 results

HCU Network America Grant Requests
https://www.mdedge.com/pediatrics/article/155749/rare-diseases/hcu-network-america-grant-requests

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.

Homocystinuria Research Grants Are Available
https://www.mdedge.com/familymedicine/article/153827/rare-diseases/homocystinuria-research-grants-are-available
Clinical Endocrinology News;

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.

NORD Welcomes Five New Member Organizations
https://www.mdedge.com/clinicalneurologynews/article/153806/rare-diseases/nord-welcomes-five-new-member-organizations

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.

October 21 Is Deadline for NORD Research Grant Abstracts
https://www.mdedge.com/neurology/article/116220/rare-diseases/october-21-deadline-nord-research-grant-abstracts

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.

NORD Announces 2016 Grant Opportunities
https://www.mdedge.com/familymedicine/article/113266/rare-diseases/nord-announces-2016-grant-opportunities
Neurology Reviews;

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.

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