Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35479/fullpdf
Reference7 articles.
1. An early onset form of methylenetetrahydrofolate reductase deficiency: A report of a family from Kuwait;Al-Tawari;Brain Dev,2002
2. Comparison and predictors of rash associated with 15 antiepileptic drugs;Arif;Neurology,2007
3. Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome;Arn;Am J Med Genet,1998
4. Relationship between antiepileptic drugs and biological markers affecting long-term cardiovascular function in children and adolescents;Cheng;Can J Clin Pharmacol,2010
5. Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations;Howard;Arch Dermatol,1997
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1. Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?;Journal of Inborn Errors of Metabolism and Screening;2019
2. Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency;Human Mutation;2016-03-18
3. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency;Journal of Inherited Metabolic Disease;2015-05-30
4. Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients;Human Mutation;2015-04-27
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