Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

2015 ◽  
Vol 36 (6) ◽  
pp. 611-621 ◽  
Author(s):  
Patricie Burda ◽  
Alexandra Schäfer ◽  
Terttu Suormala ◽  
Till Rummel ◽  
Céline Bürer ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Molecular Genetic ◽  
Enzymatic Characterization ◽  
Reductase Deficiency ◽  
Methylenetetrahydrofolate Reductase Deficiency

Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation

2003 ◽  
Vol 21 (5) ◽  
pp. 509-520 ◽  
Author(s):  
Sahar Sibani ◽  
Daniel Leclerc ◽  
Ilan S. Weisberg ◽  
Erin O'Ferrall ◽  
David Watkins ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Reductase Deficiency ◽  
Methylenetetrahydrofolate Reductase Deficiency

Methylenetetrahydrofolate reductase deficiency: therapy and outcome (with video)

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
C Thiels ◽  
K Weigt-Usinger ◽  
S Kölker ◽  
N Janzen ◽  
M Baumgartner ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Reductase Deficiency ◽  
Methylenetetrahydrofolate Reductase Deficiency

Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers

1993 ◽  
Vol 45 (5) ◽  
pp. 572-576 ◽  
Author(s):  
J. C. Haworth ◽  
L. A. Dilling ◽  
R. A. H. Surtees ◽  
L. E. Seargeant ◽  
H. Lue-Shing ◽  
...  
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Reductase Deficiency ◽  
Methylenetetrahydrofolate Reductase Deficiency

Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency

2015 ◽  
Vol 37 (1) ◽  
pp. 168-170 ◽  
Author(s):  
Tatiana Munoz ◽  
Jinesh Patel ◽  
Ramses Badilla-Porras ◽  
Jonathan Kronick ◽  
Saadet Mercimek-Mahmutoglu
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Severe Scoliosis ◽  
Reductase Deficiency ◽  
Methylenetetrahydrofolate Reductase Deficiency
Sign in / Sign up

Export Citation Format

Share Document