Jean‐François Benoist

1. Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
   2016/11/30 by Martina Huemer, Daria Diodato, Bernd Schwahn +20 · 7 citations
   Medicine · Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #Folate and B Vitamins Research #Porphyrin Metabolism and Disorders #Cassava research and cyanide
2. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
   2017/01/26 by Yair Anikster, Tobias B. Haack, Thierry Vilboux +46 · 26 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Amino acid #Biochemistry #Biology #Dopamine #Dystonia #Endocrinology #Exome sequencing #Gene #Genetics #Hyperphenylalaninemia #Inborn error of metabolism #Internal medicine #Medicine #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology #Mutation #Neuroscience #Nitric oxide synthase #Phenylalanine #Phenylalanine hydroxylase #Phenylketonurias #RNA modifications and cancer #Serotonin #Tetrahydrobiopterin #Tryptophan hydroxylase #Tyrosine #Tyrosine hydroxylase
3. Neural Tube Defects, Folic Acid and Methylation
   2013/09/17 by Apolline Imbard, Jean‐François Benoist, Henk J. Blom · 1 citation
   Medicine · #Folate and B Vitamins Research #Esophageal and GI Pathology #Prenatal Substance Exposure Effects