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5,10-Methylenetetrahydrofolate reductase deficiency
Known as:
5' 10' Methylenetetrahydrofolate Reductase Deficiency
, 5' 10' Methylenetetrahydrofolate Reductase Deficiency (MTHFR)
, MTHFR
A rare disorder associated with mental retardation, spasticity, and early death.
National Institutes of Health
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9 relations
Amino acidemia disorder suspected:Prid:Pt:Bld.dot:Nom
Conditions tested for in this newborn screening study:ID:Pt:Bld.dot:Nom
Enzyme Deficiency
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency
S. K. Uçar
,
Özge Altun Koroğlu
,
+4 authors
M. Çoker
European Journal of Pediatrics
2010
Corpus ID: 19475222
Betaine therapy was given for 2 years to a 2-year-old boy with 5,10-methylenetetrahydrofolate reductase deficiency. Used as a…
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Highly Cited
2007
Highly Cited
2007
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
K. Strauss
,
D. Morton
,
+9 authors
S. Mudd
Molecular Genetics and Metabolism
2007
Corpus ID: 25964510
Highly Cited
2003
Highly Cited
2003
Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency.
R. Selzer
,
D. Rosenblatt
,
R. Laxová
,
K. Hogan
New England Journal of Medicine
2003
Corpus ID: 20909102
Nitrous oxide irreversibly oxidizes the cobalt atom of vitamin B12, inhibiting the cobalamin-dependent enzyme methionine synthase…
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2000
2000
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency.
M. Baethmann
,
U. Wendel
,
+5 authors
T. Voit
Neuropediatrics
2000
Corpus ID: 23837624
Hydrocephalus internus (HCI) of all four ventricles in association with early neurological abnormalities is described as the…
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1998
1998
Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency
N. Sakura
,
H. Ono
,
S. Nomura
,
H. Ueda
,
N. Fujita
Journal of Inherited Metabolic Disease
1998
Corpus ID: 34862278
Many authors have reported the effectiveness of betaine in the therapy of homocystinuria. However, the appropriate dose and…
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Highly Cited
1991
Highly Cited
1991
Homocystinuria due to 5,10‐methylenetetra‐hydrofolate reductase deficiency revealed by stroke in adult siblings
J. Visy
,
P. Le Coz
,
+7 authors
M. Haguenau
Neurology
1991
Corpus ID: 32825334
Three patients from a single family of six siblings had homocystinemia and homocystinuria due to 5,10-methylenetetrahydrofolate…
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Highly Cited
1988
Highly Cited
1988
Demyelination and decreased S‐adenosylmethionine in 5.10‐methylenetetrahydrofolate reductase deficiency
K. Hyland
,
I. Smith
,
+4 authors
James V. Leonard
Neurology
1988
Corpus ID: 38482098
We previously described demyelination in the brain and subacute combined degeneration of the spinal cord in a patient with 5,10…
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1985
1985
Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency.
E. Christensen
,
N. Brandt
New England Journal of Medicine
1985
Corpus ID: 27558327
1985
1985
5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case
E. Haan
,
J. Rogers
,
G. P. Lewis
,
P. B. Rowe
Journal of Inherited Metabolic Disease
1985
Corpus ID: 11689115
We report the case of a boy with 5,10-methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe…
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Highly Cited
1984
Highly Cited
1984
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency
U. Wendel
,
H. Bremer
European Journal of Pediatrics
1984
Corpus ID: 36349858
In a 3-year-old mentally retarded girl with homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency among…
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