Search Results (14)
Click the Why column to see why an item matched the search.
| Match | Type | Why |
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| Neonatal neuroimaging findings in inborn errors of metabolism. | Academic Article |
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| APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. | Academic Article |
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| Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. | Academic Article |
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| CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. | Academic Article |
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| Colonic mucosal inflammatory cells in children and adolescents with lactase deficiency. | Academic Article |
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| Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. | Academic Article |
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| Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator. | Academic Article |
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| Pyruvate kinase deficiency in children. | Academic Article |
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| Sucrase Breath Testing in Children Presenting With Chronic Abdominal Pain. | Academic Article |
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| Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns. | Academic Article |
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| Colonic mucosal eosinophilia in children without inflammatory bowel disease. | Academic Article |
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| Developmental variations in metabolic capacity of flavin-containing mono-oxygenase 3 in childhood. | Academic Article |
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| An atlas of genetic influences on human blood metabolites. | Academic Article |
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| Glutathione metabolism and some possible functions of glutathione in the nervous system. | Academic Article |
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