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Search Results (28)

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MatchTypeWhy
Amino Acid Metabolism, Inborn ErrorsConcept Why?
Carbohydrate Metabolism, Inborn ErrorsConcept Why?
Fructose Metabolism, Inborn ErrorsConcept Why?
Lipid Metabolism, Inborn ErrorsConcept Why?
Metabolism, Inborn ErrorsConcept Why?
Metal Metabolism, Inborn ErrorsConcept Why?
Purine-Pyrimidine Metabolism, Inborn ErrorsConcept Why?
Pyruvate Metabolism, Inborn ErrorsConcept Why?
Steroid Metabolism, Inborn ErrorsConcept Why?
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.Academic Article Why?
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.Academic Article Why?
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.Academic Article Why?
Colonic mucosal inflammatory cells in children and adolescents with lactase deficiency.Academic Article Why?
Gannon, JenniferPerson Why?
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.Academic Article Why?
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