Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease - Cario, Holger; Smith, Desirée E.C.; Blom, Henk; Blau, Nenad; Bode, Harald; Holzmann, Karlheinz; Pannicke, Ulrich; Hopfner, Karl-Peter; Rump, Eva-Maria; Ayric, Zuleya; Kohne, Elisabeth; Debatin, Klaus-Michael; et al. (American journal of human genetics, 2011)
Keywords: Anemia; Anemia, Megaloblastic - diagnosis; Anemia, Megaloblastic - genetics; Biological and medical sciences; Cells; Child; Child, Preschool; Chromatography; Chromosomes; Epilepsy; Erythrocytes - metabolism; Female; Fluoresceins - metabolism; Folic Acid - blood; Folic Acid - cerebrospinal fluid; Folic Acid Deficiency - blood; Folic Acid Deficiency - cerebrospinal fluid; Folic Acid Deficiency - diagnosis; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Homozygote; Humans; Male; Medical genetics; Medical sciences; Metabolism; Methotrexate - analogs & derivatives; Methotrexate - metabolism; Models, Molecular; Molecular and cellular biology; Mutation; Mutation - genetics; Nervous System Diseases - diagnosis; Nervous System Diseases - genetics; Pedigree; Protein Conformation; Tetrahydrofolate Dehydrogenase - chemistry; Tetrahydrofolate Dehydrogenase - deficiency; Tetrahydrofolate Dehydrogenase - genetics; Vitamin B; Vitamin deficiency; Human; Nervous system diseases; Megaloblastic anemia; Enzyme; Critically ill; Deficiency; Hemopathy; Homozygosity; Folate; Encephalon; Genetics; Oxidoreductases; Dihydrofolate reductase; Mutation