caa a22 4500 467932573 CHVBK 20180406152947.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0155-9 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0155-9 Biochemical compared to molecular diagnosis in acute intermittent porphyria [Elektronische Daten] [U. Groß, H. Puy, K. Jacob, J. Deybach, J. Kremer, M. Doss] Summary: The biochemical and the molecular diagnoses of an inherited porphyria require experience. False positive or negative screening tests and the low penetrance of the disease make a correct diagnosis difficult.The biochemical and the molecular procedures for the diagnosis of acute intermittent porphyria were applied to five unrelated patients suffering from acute intermittent porphyria. All patients were shown to be gene carriers of acute intermittent porphyria by both methods. The two different possibilities of the diagnosis corresponded well. In a family definitively identified by molecular diagnosis of one of the patients and his relatives, the patient's two children were asymptomatic. His son was shown to be a gene carrier of the father's deficiency by biochemical as well as molecular analysis, whereas his daughter was not affected by acute intermittent porphyria. SSIEM and Springer, 2006 Groß U. German Competence Center for Porphyria Diagnosis and Consultation, Marburg, Germany aut Puy H. Centre Français des Porphyries, Inserm U656, Hôpital Louis Mourier, Colombes Cedex, France aut Jacob K. Institut für Klinische Chemie am Klinikum Grosshadern der Universität München, München aut Deybach J. Centre Français des Porphyries, Inserm U656, Hôpital Louis Mourier, Colombes Cedex, France aut Kremer J. Gemeinschaftspraxis Hillig Kremer, Staden, Germany aut Doss M. German Competence Center for Porphyria Diagnosis and Consultation, Marburg, Germany aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 157-161 0141-8955 29:1<157 2006 29 10545 https://doi.org/10.1007/s10545-006-0155-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0155-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Groß U. German Competence Center for Porphyria Diagnosis and Consultation, Marburg, Germany aut NATIONALLICENCE 700 1- Puy H. Centre Français des Porphyries, Inserm U656, Hôpital Louis Mourier, Colombes Cedex, France aut NATIONALLICENCE 700 1- Jacob K. Institut für Klinische Chemie am Klinikum Grosshadern der Universität München, München aut NATIONALLICENCE 700 1- Deybach J. Centre Français des Porphyries, Inserm U656, Hôpital Louis Mourier, Colombes Cedex, France aut NATIONALLICENCE 700 1- Kremer J. Gemeinschaftspraxis Hillig Kremer, Staden, Germany aut NATIONALLICENCE 700 1- Doss M. German Competence Center for Porphyria Diagnosis and Consultation, Marburg, Germany aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 157-161 0141-8955 29:1<157 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer