A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient von Rojas Velazquez, Maria Natalia, Blanco, Fabiola, Ayala-Lugo, Ana, Franco, Lady, Jolly, Valerie, Di Tore, Denisse, Martínez de Lapiscina, Idoia, Janner, Marco, Flück, Christa E, Pandey, Amit V

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Impact of Type 1 Diabetes Mellitus on Bone Health in Children von Janner, Marco, Saner, Christoph

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Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves' disease von Steffens, Britta, Koch, Gilbert, Gächter, Pascal, Claude, Fabien, Gotta, Verena, Bachmann, Freya, Schropp, Johannes, Janner, Marco, l'Allemand, Dagmar, Konrad, Daniel, Welzel, Tatjana, Szinnai, Gabor, Pfister, Marc

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Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17[beta]-Hydroxysteroid Dehydrogenase Activities von Janner, Marco, Sommer, Grit, Groessl, Michael, Fluck, Christa E

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Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities von Janner, Marco, Sommer, Grit, Groessl, Michael, Flück, Christa E

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Clinical and biochemical description of a novel CYP21A2 gene mutation 962_963insA using a new 3D model for the P450c21 protein von Janner, Marco, Pandey, Amit V, Mullis, Primus E, Flück, Christa E

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A Novel Mutation in the IINSR/I Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient von Rojas Velazquez, Maria Natalia, Blanco, Fabiola, Ayala-Lugo, Ana, Franco, Lady, Jolly, Valerie, Di Tore, Denisse, Martínez de Lapiscina, Idoia, Janner, Marco, Flück, Christa E, Pandey, Amit V

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Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis von Dasgupta, Debayan, Wee, Mark J, Reyes, Monica, Li, Yuwen, Simm, Peter J, Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew, Lazier, Joanna, Gessner, Michaela, Chrysis, Dionisios, Tuchman, Shamir, Baluarte, H Jorge, Levine, Michael A, Tiosano, Dov, Insogna, Karl, Hanley, David A, Carpenter, Thomas O, Ichikawa, Shoji, Hoppe, Bernd, Konrad, Martin, Sävendahl, Lars, Munns, Craig F, Lee, Hang, Jüppner, Harald, Bergwitz, Clemens

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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta von Moosa, Shahida, Yamamoto, Guilherme L, Garbes, Lutz, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco

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Evidence for protein leverage in a general population sample of children and adolescents von Saner, Christoph, Senior, Alistair M., Zhang, Hanyue, Eloranta, Aino-Maija, Magnussen, Costan G., Sabin, Matthew A., Juonala, Markus, Janner, Marco, Burgner, David P., Schwab, Ursula, Haapala, Eero A., Heitmann, Berit L., Simpson, Stephen J., Raubenheimer, David, Lakka, Timo A.

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Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta von Moosa, Shahida, Yamamoto, Guilherme L., Garbes, Lutz, Keupp, Katharina, Beleza-Meireles, Ana, Moreno, Carolina Araujo, Valadares, Eugenia Ribeiro, de Sousa, Sérgio B., Maia, Sofia, Saraiva, Jorge, Honjo, Rachel S., Kim, Chong Ae, Cabral de Menezes, Hamilton, Lausch, Ekkehart, Lorini, Pablo Villavicencio, Lamounier, Arsonval, Carniero, Tulio Canella Bezerra, Giunta, Cecilia, Rohrbach, Marianne, Janner, Marco, Semler, Oliver, Beleggia, Filippo, Li, Yun, Yigit, Gökhan, Reintjes, Nadine, Altmüller, Janine, Nürnberg, Peter, Cavalcanti, Denise P., Zabel, Bernhard, Warman, Matthew L., Bertola, Debora R., Wollnik, Bernd, Netzer, Christian

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Modest decrease in severity of obesity in adolescence associates with low arterial stiffness von Saner, Christoph, Laitinen, Tomi T., Nuotio, Joel, Arnup, Sarah J., Harcourt, Brooke E., Bekkering, Siroon, McCallum, Zoe, Kao, Kung-Ting, Janner, Marco, Magnussen, Costan G., Sabin, Matthew A., Juonala, Markus, Burgner, David P.

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FRI478 Pharmacometrics-based Computer Model Utilizing Heart Rate To Monitor Thyroid Function In Children With Graves' Disease von Steffens, Britta, Koch, Gilbert, Claude, Fabien, Bachmann, Freya, Schropp, Johannes, Janner, Marco, l'Allemand, Dagmar, Konrad, Daniel, Pfister, Marc, Szinnai, Gabor

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Prescription of vitamin D among Swiss pediatricians von Santi, Maristella, Janner, Marco, Simonetti, Giacomo D., Lava, Sebastiano A. G.

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Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study von Koch, Gilbert, Steffens, Britta, Leroux, Stephanie, Gotta, Verena, Schropp, Johannes, Gächter, Pascal, Bachmann, Freya, Welzel, Tatjana, Janner, Marco, L’Allemand, Dagmar, Konrad, Daniel, Szinnai, Gabor, Pfister, Marc

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SUN-073 Urine Steroid Profile of Girls with Premature Adrenarche von Sommer, Grit, Janner, Marco, Groessl, Michael, Flueck, Christa E

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Circadian and ultradian cardiovascular rhythmicity in obese children von Saner, Christoph, Simonetti, Giacomo D., Wühl, Elke, Mullis, Primus E., Janner, Marco

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Increased ambulatory arterial stiffness index in obese children von Saner, Christoph, Simonetti, Giacomo D, Wühl, Elke, Mullis, Primus E, Janner, Marco

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Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes von Grassi, Mara, Laubscher, Bernard, Pandey, Amit V., Tschumi, Sibylle, Graber, Franziska, Schaller, André, Janner, Marco, Aeberli, Daniel, Hewer, Ekkehard, Nuoffer, Jean-Marc, Gautschi, Matthias

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Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway von Marti, Nesa, Malikova, Jana, Galván, José A., Aebischer, Maude, Janner, Marco, Sumnik, Zdenek, Obermannova, Barbora, Escher, Genevieve, Perren, Aurel, Flück, Christa E.

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