المؤلفون: Arturo Borzutzky, Anke K. Bergmann, Brian D. Crompton, Silvia Giliani, Sachin N. Baxi, Madelena Martin, Luigi D. Notarangelo, Ellis J. Neufeld

المصدر: Clinical Immunology. 133:287-294

مصطلحات موضوعية: Male, Cellular immunity, Anemia, T-Lymphocytes, Lymphocyte, Immunology, Leucovorin, Biology, Polymerase Chain Reaction, Article, Immunophenotyping, Hypogammaglobulinemia, Folic Acid, medicine, Humans, Point Mutation, Immunology and Allergy, Immunodeficiency, Severe combined immunodeficiency, Base Sequence, Genetic Variation, Infant, Membrane Transport Proteins, DNA, Normocytic anemia, Flow Cytometry, medicine.disease, medicine.anatomical_structure, Intestinal Absorption, Inborn error of metabolism, Female, Severe Combined Immunodeficiency, Proton-Coupled Folate Transporter

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b927e832b9101dc4a602fe0c80e520aTest
https://doi.org/10.1016/j.clim.2009.08.006Test

المؤلفون: Adam Bagg, Robin Casey, Jill F. Falcone, Inderneel Sahai, Elizabeth O. Hexner, Lulu Mathews, Anke K. Bergmann, Klaas J. Wierenga, Caterina Borgna-Pignati, Luca Fabris, Maria Leticia Ribeiro, Judy Fleming, Ellis J. Neufeld

المصدر: The Journal of Pediatrics. 155:888-892.e1

مصطلحات موضوعية: Adult, Male, Heterozygote, thiamine, megaloblastic anemia, Anemia, Megaloblastic, Deafness, Biology, medicine.disease_cause, Compound heterozygosity, Article, Cohort Studies, Diabetes Mellitus, OMIM : Online Mendelian Inheritance in Man, medicine, Thiamine transporter, Humans, Missense mutation, Allele, Child, Megaloblastic anemia, Genetics, Mutation, Infant, Membrane Transport Proteins, medicine.disease, Phenotype, Child, Preschool, Vitamin B Complex, Pediatrics, Perinatology and Child Health, biology.protein, SLC19A2, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f8d23913e93cac91499dce0d83dc155Test
https://doi.org/10.1016/j.jpeds.2009.06.017Test