المؤلفون: Yuanying Chen, Boliang Fang, Xuyun Hu, Ruolan Guo, Jun Guo, Kenan Fang, Jingwen Ni, Wei Li, Suyun Qian, Chanjuan Hao

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: SLC25A19, Thiamine pyrophosphate, Thiamine metabolism dysfunction syndrome 4, Functional study, Exome sequencing, Compound heterozygosity, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/461027c381034d498687e1811b6ce7b3Test

المؤلفون: Chanjuan Hao, Xuyun Hu, Kenan Fang, Jingwen Ni, Jun Guo, Wei Li, Suyun Qian, Boliang Fang, Yuanying Chen, Ruolan Guo

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Exome sequencing, Encephalopathy, Functional study, Biology, Compound heterozygosity, Genetic analysis, Mitochondrial Membrane Transport Proteins, chemistry.chemical_compound, symbols.namesake, Thiamine metabolism dysfunction syndrome 4, medicine, Humans, Pharmacology (medical), Thiamine, Fever of unknown origin, Genetics (clinical), Sanger sequencing, Genetics, Brain Diseases, Research, Membrane Transport Proteins, Thiamine Deficiency, General Medicine, medicine.disease, Human genetics, Phenotype, chemistry, Mutation, symbols, Medicine, Thiamine pyrophosphate, SLC25A19

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3bb0471acbbe7290690ec335c05695Test
https://doaj.org/article/461027c381034d498687e1811b6ce7b3Test

المؤلفون: Centre Hospitalier Régional de la Citadelle, University of Liege, Sanofi, Orchard Therapeutics, Takeda, Zentech-Lacar Company, Leon Fredericq Foundation

المساهمون: Laurent Servais, Professor

المصدر: Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT05687474Test

Other URLs: http://www.babydetect.comTest