A Patient With CAD Deficiency Responsive to Uridine and Literature Review
Author:
Publisher
Frontiers Media SA
Subject
Clinical Neurology,Neurology
Reference9 articles.
1. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors;Ng;Hum Mol Genet,2015
2. Mapping of the gene encoding the multifunctional protein carrying out the first three steps of pyrimidine biosynthesis to human chromosome 2;Chen;Hum Genet,1989
3. High rate of CAD gene amplification in human cells deficient in MLH1 or MSH6;Chen;Proc Natl Acad Sci USA.,2001
4. CAD mutations and uridine-responsive epileptic encephalopathy;Koch;Brain,2017
5. De novo synthesis of pyrimidine nucleotides; emerging interfaces with signal transduction pathways;Huang;Cell Mol Life Sci.,2003
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1. Biallelic hypomorphic variants in CAD cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2;British Journal of Haematology;2023-11-20
2. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency;Journal of Inherited Metabolic Disease;2023-09-11
3. Generation of a human iPSC line BCHNCi001-A from a patient with uridine-responsive epileptic encephalopathy carrying biallelic CAD mutations;Stem Cell Research;2022-12
4. Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis;Molecular Genetics and Metabolism;2022-07
5. Nutrition interventions in congenital disorders of glycosylation;Trends in Molecular Medicine;2022-06
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