Detalhe da pesquisa
1.
CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression.
J Med Genet;
58(7): 484-494, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32820034
2.
The diagnostic utility of folate receptor autoantibodies in blood.
Clin Chem Lab Med;
51(3): 545-54, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23314538
3.
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Elife;
122023 01 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36648066
4.
Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Nutrients;
14(15)2022 Jul 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35956272
5.
Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport.
Mol Genet Metab;
101(1): 48-54, 2010 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20619709
6.
Improving Outcome in Infantile Autism with Folate Receptor Autoimmunity and Nutritional Derangements: A Self-Controlled Trial.
Autism Res Treat;
2019: 7486431, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31316831
7.
Analysis of 5-methyltetrahydrofolate in serum of healthy children.
Mol Genet Metab;
87(1): 61-5, 2006 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16310391
8.
Cerebral folate deficiency.
Dev Med Child Neurol;
46(12): 843-51, 2004 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15581159