Biochemical diagnosis of genetic diseases.
Wappner
R S
RS
Section of Pediatric Metabolism and Genetics, Indiana University School of Medicine, Indianapolis.
D000596:Amino Acids / Q000032:analysis; D050260:Carbohydrate Metabolism; D004247:DNA / Q000032:analysis; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis; D008830:Microbodies / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism
D000596:Amino Acids; D006025:Glycosaminoglycans; D004247:DNA