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A concise survey of objectives, recommendations, and methods. Detailed attention given to disease with well-defined screening tests and management (phenylketonuria, tyrosinemia, maple-syrup urine disease, galactosemia, Wilson's disease), diseases manifest in a specific setting (porphyrias, pseudocholinesterase deficiency), and diseases presently not so readily fit into screening programs (adrenogenital syndrome, cystic fibrosis of the pancreas, muscular dystrophy, Hurler's syndrome, sucrase-isomaltase deficiency). Earlier reports considered abnormal hemoglobins, thalassemia, and glucose-6 phosphate dehydrogenase (see editorial note by Ian H. Porter, p. 250 of the January 1968 ANNALS). The United States was represented in the Group by A. G. Bearn (Chairman), and I. H. Scheinberg.
Screening for Inborn Errors of Metabolism.. Ann Intern Med. ;70:672. doi: 10.7326/0003-4819-70-3-672_4
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Published: Ann Intern Med. 1969;70(3):672.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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