caa a22 4500 469044888 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920901xx s 000 0 eng 10.1007/BF01800013 doi (NATIONALLICENCE)springer-10.1007/BF01800013 In vivo 13C-NMR evaluation of glycogen content in a patient with glycogen storage disease [Elektronische Daten] [Ph. Labrune, Ph. Jehenson, A. Syrota, M. Odièvre] Summary: Glycogen storage disease was suspected in a 10-month-old boy. Initial technical problems did not permit the determination of the precise enzyme deficiency, and type VI glycogen storage disease was only diagnosed at the age of 2 years. In the mean time, natural abundance13C nuclear magnetic resonance evaluation of muscular and hepatic glycogen content indicated normal muscular glycogen and increased hepatic glycogen in our patient, a finding which strongly argued for the diagnosis of type VI glycogen storage disease. Even though the use of nuclear magnetic resonance might seem, in this situation, a somewhat circuitous means of reaching the diagnosis, it appears that nuclear magnetic resonance could provide a useful tool for a non-invasive diagnosis of glycogen storage diseases. SSIEM and Kluwer Academic Publishers, 1992 Labrune Ph Service de Pédiatrie, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart Cedex aut Jehenson Ph Service Hospitalier Frédéric Joliot, CEA, 91406, Orsay, France aut Syrota A. Service Hospitalier Frédéric Joliot, CEA, 91406, Orsay, France aut Odièvre M. Service de Pédiatrie, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart Cedex aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 723-726 0141-8955 15:5<723 1992 15 10545 https://doi.org/10.1007/BF01800013 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800013 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Labrune Ph Service de Pédiatrie, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart Cedex aut NATIONALLICENCE 700 1- Jehenson Ph Service Hospitalier Frédéric Joliot, CEA, 91406, Orsay, France aut NATIONALLICENCE 700 1- Syrota A. Service Hospitalier Frédéric Joliot, CEA, 91406, Orsay, France aut NATIONALLICENCE 700 1- Odièvre M. Service de Pédiatrie, Hôpital Antoine Béclère, 157 rue de la Porte de Trivaux, 92141, Clamart Cedex aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 723-726 0141-8955 15:5<723 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer