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pro vyhledávání: '"Karen M. Kloke"'
Publikováno v:
Gastroenterology clinics of North America. 48(2)
Inborn errors of metabolism (IEMs) are usually recognized by characteristic neurologic and metabolic manifestations and sometimes by dysmorphism. However, IEMs can present with a wide variety of gastrointestinal manifestations, whether as the primary
Autor:
Karen M. Kloke, Paul A. Chezick, Abdul H. Fauq, Joseph P. McConnell, Roddey E. Ford, Mark J. Magera
Publikováno v:
Clinical Chemistry. 47:1627-1632
Background: Measurement of porphobilinogen (PBG) is useful in the diagnosis of the acute neurologic porphyrias. Currently used colorimetric assays lack analytical and clinical sensitivity and specificity.Methods: We developed a liquid chromatography-