{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Morris AAM"],"funding":["Ministerstvo Zdravotnictví Ceské Republiky","Univerzita Karlova v Praze","Charles University","Ministry of Health of the Czech Republic","General University Hospital in Prague","Všeobecná Fakultní Nemocnice v Praze"],"pagination":["e12844"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11729643"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["48(1)"],"pubmed_abstract":["Cystathionine β-synthase (CBS) deficiency (classical homocystinuria) has a wide range of severity. Mildly affected patients typically present as adults with thromboembolism and respond to treatment with pyridoxine. Severely affected patients usually present during childhood with learning difficulties, ectopia lentis and skeletal abnormalities; they are pyridoxine non-responders (NR) or partial responders (PR) and require treatment with a low-methionine diet and/or betaine. The European network and registry for Homocystinurias and methylation Defects (E-HOD) has published management guidelines for CBS deficiency and recommended keeping plasma total homocysteine (tHcy) concentrations below 100 μmol/L. We have now analysed data from 311 patients in the registry to see how closely treatment fo"],"journal":["Journal of inherited metabolic disease"],"pubmed_title":["Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment."],"pmcid":["PMC11729643"],"funding_grant_id":["Cooperatio-MetabolicDisorders","RVO-VFN64165","RVO‐VFN64165","NU23‐07‐00383","NU23-07-00383","Cooperatio‐MetabolicDisorders"],"pubmed_authors":["Williams M","Blanco FA","Kaufman C","Chien YH","Maillot F","Mundy H","Kolker S","Hannibal L","Crushell E","Stepien KM","Ficicioglu C","Moreno CA","E‐HOD Consortium","Pavlikova M","Morris AAM","Lusebrink N","Martins AM","Stainforth C","Zielonka M","Jimenez MCG","Schwahn BC","Lachmann R","Moreira S","Heras JL","Sremba LJ","Schiff M","Arantes RR","Murphy E","Gaspar A","Baumgartner MR","Olivas SM","Blom HJ","Janssen MCH","Jesina P","Pena-Quintana L","Porras-Hurtado GL","Mention K","Ballhausen D","Minana IV","Baghdasaryan A","Lavigne C","Huemer M","Ramadza DP","Pons MR","Bueno M","Villarroya EC","Servais A","Leguina DG","Terry A","Brouwers M","Chapman KA","Schwartz IVD","Gleich F","Burgos R","Olivieri G","Monavari A","Mochel F","Pinera IV","Schiaffino MC","Redonnet-Vernhet I","Santra S","Couce ML","Zeman J","Rennings A","Paquay S","Sykut-Cegielska J","Lund AM","Quijada-Fraile P","Sokolova J","Dionisi-Vici C","Blasco-Alonso J","Kozich V","Cano A"],"additional_accession":[]},"is_claimable":false,"name":"Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment.","description":"Cystathionine β-synthase (CBS) deficiency (classical homocystinuria) has a wide range of severity. Mildly affected patients typically present as adults with thromboembolism and respond to treatment with pyridoxine. Severely affected patients usually present during childhood with learning difficulties, ectopia lentis and skeletal abnormalities; they are pyridoxine non-responders (NR) or partial responders (PR) and require treatment with a low-methionine diet and/or betaine. The European network and registry for Homocystinurias and methylation Defects (E-HOD) has published management guidelines for CBS deficiency and recommended keeping plasma total homocysteine (tHcy) concentrations below 100 μmol/L. We have now analysed data from 311 patients in the registry to see how closely treatment fo","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jan","modification":"2026-06-01T22:51:37.977Z","creation":"2025-04-04T01:29:40.812Z"},"accession":"S-EPMC11729643","cross_references":{"pubmed":["40095936"],"doi":["10.1002/jimd.12844"]}}