A case of methylenetetrahydrofolate reductase deficiency enzyme deficiency carrying a novel mutation

2019 ◽  
Vol 7 (5) ◽  
pp. 276-278
Author(s):  
Shaweta Khosa ◽  
David Girard ◽  
Gurveer S. Khosa ◽  
Soma S. Srivastava ◽  
Shri K. Mishra
Keyword(s):  
Methylenetetrahydrofolate Reductase ◽  
Novel Mutation ◽  
Enzyme Deficiency ◽  
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
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