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Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9.
J Inherit Metab Dis. 2022.
PMID: 35460084
Free article.
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium.
Kožich V, et al.
J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28.
J Inherit Metab Dis. 2021.
PMID: 33295057
Free PMC article.
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Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F; E-HOD Consortium.
Marelli C, et al.
J Inherit Metab Dis. 2021 May;44(3):777-786. doi: 10.1002/jimd.12323. Epub 2020 Nov 2.
J Inherit Metab Dis. 2021.
PMID: 33089527
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