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HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
Known as:
METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
, MTHFR DEFICIENCY
National Institutes of Health
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Related topics
Related topics
11 relations
5,10-Methylenetetrahydrofolate reductase deficiency
Abnormal behavior
Abnormal coordination
Autosomal recessive inheritance
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism.
M. Akiyama
,
T. Akiyama
,
+10 authors
Katsuhiro Kobayashi
Clinica chimica acta; international journal of…
2016
Corpus ID: 23608642
2015
2015
A case of severe methylenetetrahydrofolate reductase deficiency presenting as neonatal encephalopathy, seizures, microcephaly and central hypoventilation
S. Balasubramaniam
,
G. Salomons
,
H. Blom
2015
Corpus ID: 70442193
Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in the remethylation of homocysteine to methionine. S…
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2009
2009
Hyperhomocysteinemia is associated with hypertriglyceridemia in mice with methylenetetrahydrofolate reductase deficiency.
L. Mikael
,
Xiao-ling Wang
,
Qing Wu
,
Hua Jiang
,
K. Maclean
,
R. Rozen
Molecular genetics and metabolism
2009
Corpus ID: 2178154
2008
2008
[Case of juvenile stroke caused by methylenetetrahydrofolate reductase deficiency].
N. Yuasa
,
Tatsuya Ishikawa
,
K. Tokuoka
,
Y. Kitagawa
,
S. Takagi
Rinsho shinkeigaku = Clinical neurology
2008
Corpus ID: 43308088
The patient had suffered from left hemiparesis at the age of thirteen months, and acute ischemic stroke of unknown etiology had…
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2002
2002
An early onset form of methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait
A. A. Tawari
,
D. Ramadan
,
D. Neubauer
,
L. C. Heberle
,
Fatema Al Awadi
Brain and Development
2002
Corpus ID: 10539240
2001
2001
Early seizures in homocystinuria with methylenetetrahydrofolate reductase deficiency
F. Salefranque
,
M. Vecchierini
2001
Corpus ID: 148921150
Highly Cited
1992
Highly Cited
1992
Increased neurotoxicity of arsenic in methylenetetrahydrofolate reductase deficiency
O. Brouwer
,
W. Onkenhout
,
P. Edelbroek
,
J. D. Kom
,
F. Wolff
,
A. Peters
Clinical Neurology and Neurosurgery
1992
Corpus ID: 23858083
Highly Cited
1989
Highly Cited
1989
Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency.
E. Holme
,
B. Kjellman
,
E. Ronge
Archives of disease in childhood
1989
Corpus ID: 27755083
A 24 day old girl with homocystinuria and hypomethioninaemia caused by methylenetetrahydrofolate reductase deficiency presented…
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1983
1983
Prenatal diagnosis for methylenetetrahydrofolate reductase deficiency.
U. Wendel
,
U. Claussen
,
E. Diekmann
The Journal of pediatrics
1983
Corpus ID: 39169963
1977
1977
Folic acid nonresponsive homocystinuria due to methylenetetrahydrofolate reductase deficiency.
P. Wong
,
P. Justice
,
M. Hruby
,
E. Weiss
,
E. Diamond
Pediatrics
1977
Corpus ID: 11512649
Four siblings from a family with 11 children of Irish ancestry were observed to suffer from an essentially identical clinical…
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