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Author/Creator Froese, D. Sean

2. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. Issue 1 (30th May 2015)

Authors:
Huemer, Martina; Mulder‐Bleile, Regina; Burda, Patricie; Froese, D. Sean; Suormala, Terttu; Zeev, Bruria Ben; Chinnery, Patrick F.; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Gökcay, Gülden; Demirkol, Mübeccel; Häberle, Johannes; Lossos, Alexander; Mengel, Eugen; Morris, Andrew A.; Niezen‐Koning, Kl...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 1(2016)
Page Start:
115
Record Type:
Journal Article
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5. Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. Issue 2 (14th October 2016)

Authors:
Burda, Patricie; Suormala, Terttu; Heuberger, Dorothea; Schäfer, Alexandra; Fowler, Brian; Froese, D. Sean; Baumgartner, Matthias R.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 2(2017)
Page Start:
297
Record Type:
Journal Article
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6. Insights into Severe 5, 10‐Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients. Issue 6 (27th April 2015)

Authors:
Burda, Patricie; Schäfer, Alexandra; Suormala, Terttu; Rummel, Till; Bürer, Céline; Heuberger, Dorothea; Frapolli, Michele; Giunta, Cecilia; Sokolová, Jitka; Vlášková, Hana; Kožich, Viktor; Koch, Hans Georg; Fowler, Brian; Froese, D. Sean; Baumgartner, Matthias R.
Journal:
Human mutation
Issue:
Volume 36:Issue 6(2015:Jun.)
Page Start:
611
Record Type:
Journal Article
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9. Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry. Issue 2 (17th February 2019)

Authors:
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi‐Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana;...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 2(2019)
Page Start:
333
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗