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About 588 results

ALLMedicine™ Homocystinuria Center

Research & Reviews  202 results

Setting Sun Ectopia Lentis in Homocystinuria.
https://doi.org/10.3928/23258160-20220524-01
Ophthalmic Surgery, Lasers & Imaging Retina; Moinuddin O, Rao RC

Jun 21st, 2022 - Setting Sun Ectopia Lentis in Homocystinuria.|2022|Moinuddin O,Rao RC,|diagnosis,etiology,complications,diagnosis,

Pegtibatinase as an Enzyme Therapy for Patients With Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)
https://clinicaltrials.gov/ct2/show/NCT03406611

Jun 8th, 2022 - Homocystinuria caused by Cystathionine Beta-Synthase (CBS) Deficiency is a rare autosomal-recessive metabolic condition characterized by an excess of homocysteine (Hcy) in the plasma, tissues and urine. It is due to reduced or absent activity of t...

Dermatologic Manifestations of Homocystinuria
https://emedicine.medscape.com/article/1115062-overview

May 17th, 2022 - Practice Essentials Homocystinuria is an inherited autosomal recessive defect in methionine metabolism that is caused by a deficiency in cystathionine synthase. [1] This defect leads to a multisystemic disorder of the connective tissue, muscles, C...

Dermatologic Manifestations of Homocystinuria
https://emedicine.medscape.com/article/1115062-print

May 17th, 2022 - Practice Essentials Homocystinuria is an inherited autosomal recessive defect in methionine metabolism that is caused by a deficiency in cystathionine synthase.[1] This defect leads to a multisystemic disorder of the connective tissue, muscles, CN...

Dermatologic Manifestations of Homocystinuria
http://emedicine.medscape.com/article/1115062-overview

May 17th, 2022 - Practice Essentials Homocystinuria is an inherited autosomal recessive defect in methionine metabolism that is caused by a deficiency in cystathionine synthase. [1] This defect leads to a multisystemic disorder of the connective tissue, muscles, C...

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Drugs  6 results see all →

Clinicaltrials.gov  13 results

Pegtibatinase as an Enzyme Therapy for Patients With Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)
https://clinicaltrials.gov/ct2/show/NCT03406611

Jun 8th, 2022 - Homocystinuria caused by Cystathionine Beta-Synthase (CBS) Deficiency is a rare autosomal-recessive metabolic condition characterized by an excess of homocysteine (Hcy) in the plasma, tissues and urine. It is due to reduced or absent activity of t...

A Multiple Ascending Dose Study of ACN00177 in Subjects With CBS Deficiency
https://clinicaltrials.gov/ct2/show/NCT05154890

Apr 8th, 2022 - The purpose of this Phase 1/2 study is to evaluate the safety, pharmacokinetics and pharmacodynamics of multiple ascending doses of ACN00177 in subjects with homocystinuria due to CBS deficiency. The study is composed of 2 parts: Part 1: a single ...

Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
https://clinicaltrials.gov/ct2/show/NCT02998710

Feb 4th, 2022 - The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 5 to 65 years under current clinical management practices

Effect of Acetaminophen and N-Acetylcysteine on Liver Metabolism on Homocystinuria
https://clinicaltrials.gov/ct2/show/NCT04015557

Jun 30th, 2021 - STUDY PROCEDURES A phase I-II clinical cross-over, not blinded, trial will be conducted. Adult patients with homocystinuria and paired-sex and age- healthy controls will be enrolled. Individuals with hepatic, renal or gastric disease; smokers, ill...

Effects of Exercise on Metabolic Parameters in Classical Homocystinuria
https://clinicaltrials.gov/ct2/show/NCT04021732

Mar 30th, 2021 - Background Among genetic causes of hyperhomocysteinemia, classical homocystinuria, manifest not only with vascular diseases but also with neurological symptoms. This is related to the higher homocysteine concentration of up to 150-300 μmol/l witho...

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News  14 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.

HCU Network America Grant Requests
https://www.mdedge.com/clinicianreviews/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.

Homocystinuria Research Grants Are Available
https://www.mdedge.com/clinicianreviews/article/153827/rare-diseases/homocystinuria-research-grants-are-available

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.

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