檢索結果 - Schnabel, Dirk

Treatment of Dwarfism With Recombinant Human Insulin-Like Growth Factor-1 由 Ranke, Michael B., Wölfle, Joachim, Schnabel, Dirk, Bettendorf, Markus

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Rickets guidance: part I—diagnostic workup 由 Haffner, Dieter, Leifheit-Nestler, Maren, Grund, Andrea, Schnabel, Dirk

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Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets 由 Lorenz-Depiereux, Bettina, Schnabel, Dirk, Tiosano, Dov, Häusler, Gabriele, Strom, Tim M.

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Acceptability of the reusable SurePal™ self-injection device for Omnitrope(®) among pediatric patients: results from a questionnaire-based, cross-sectional, multicenter observation... 由 Partsch, Carl-Joachim, Schnabel, Dirk, Ehtisham, Sarah, Johnstone, Helen C, Zabransky, Markus, Kiess, Wieland

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A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B) 由 Reyes, Monica, Kagami, Masayo, Kawashima, Sayaka, Pallotta, Johanna, Schnabel, Dirk, Fukami, Maki, Jüppner, Harald

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Acceptance of a reusable self-injection device for recombinant human growth hormone: final data from a questionnaire-based, cross-sectional, international, multicenter, observation... 由 Schnabel, Dirk, Partsch, Carl-Joachim, Houang, Muriel, Ehtisham, Sarah, Johnstone, Helen, Zabransky, Markus, Kiess, Wieland

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Effectiveness and Overall Safety of NutropinAq(®) for Growth Hormone Deficiency and Other Paediatric Growth Hormone Disorders: Completion of the International Cooperative Growth St... 由 Coutant, Regis, Bosch Muñoz, Jordi, Dumitrescu, Cristina Patricia, Schnabel, Dirk, Sert, Caroline, Perrot, Valerie, Dattani, Mehul

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Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts’ consensus 由 Binder, Gerhard, Schnabel, Dirk, Reinehr, Thomas, Pfäffle, Roland, Dörr, Helmuth-Günther, Bettendorf, Markus, Hauffa, Berthold, Woelfle, Joachim

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Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism 由 Alatzoglou, Kyriaki S., Kelberman, Daniel, Cowell, Christopher T., Palmer, Rodger, Arnhold, Ivo J. P., Melo, Maria E., Schnabel, Dirk, Grueters, Annette, Dattani, Mehul T.

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Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes 由 Grüters-Kieslich, Annette, Reyes, Monica, Sharma, Amita, Demirci, Cem, DeClue, Terry J., Lankes, Erwin, Tiosano, Dov, Schnabel, Dirk, Jüppner, Harald

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Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency 由 Köhler, Birgit, Lin, Lin, Ferraz-de-Souza, Bruno, Wieacker, Peter, Heidemann, Peter, Schröder, Vanessa, Biebermann, Heike, Schnabel, Dirk, Grüters, Annette, Achermann, John C

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Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors 由 Letz, Saskia, Rus, Ramona, Haag, Christine, Dörr, Helmuth-Günther, Schnabel, Dirk, Möhlig, Matthias, Schulze, Egbert, Frank-Raue, Karin, Raue, Friedhelm, Mayr, Bernhard, Schöfl, Christof

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FGF23 and its role in X-linked hypophosphatemia-related morbidity 由 Beck-Nielsen, Signe Sparre, Mughal, Zulf, Haffner, Dieter, Nilsson, Ola, Levtchenko, Elena, Ariceta, Gema, de Lucas Collantes, Carmen, Schnabel, Dirk, Jandhyala, Ravi, Mäkitie, Outi

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The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study 由 Padidela, Raja, Nilsson, Ola, Makitie, Outi, Beck-Nielsen, Signe, Ariceta, Gema, Schnabel, Dirk, Brandi, Maria Luisa, Boot, Annemieke, Levtchenko, Elena, Smyth, Michael, Jandhyala, Ravi, Mughal, Zulf

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Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3 由 Lorenz-Depiereux, Bettina, Benet-Pages, Anna, Eckstein, Gertrud, Tenenbaum-Rakover, Yardena, Wagenstaller, Janine, Tiosano, Dov, Gershoni-Baruch, Ruth, Albers, Norbert, Lichtner, Peter, Schnabel, Dirk, Hochberg, Ze’ev, Strom, Tim M.

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Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity 由 Korvala, Johanna, Jüppner, Harald, Mäkitie, Outi, Sochett, Etienne, Schnabel, Dirk, Mora, Stefano, Bartels, Cynthia F, Warman, Matthew L, Deraska, Donald, Cole, William G, Hartikka, Heini, Ala-Kokko, Leena, Männikkö, Minna

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Mild COVID-19 despite autoantibodies against type I IFNs in autoimmune polyendocrine syndrome type 1 由 Meisel, Christian, Akbil, Bengisu, Meyer, Tim, Lankes, Erwin, Corman, Victor M., Staudacher, Olga, Unterwalder, Nadine, Kölsch, Uwe, Drosten, Christian, Mall, Marcus A., Kallinich, Tilmann, Schnabel, Dirk, Goffinet, Christine, von Bernuth, Horst

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Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency 由 Krude, Heiko, Schütz, Barbara, Biebermann, Heike, von Moers, Arpad, Schnabel, Dirk, Neitzel, Heidi, Tönnies, Holger, Weise, Dagmar, Lafferty, Antony, Schwarz, Siegfried, DeFelice, Mario, von Deimling, Andreas, van Landeghem, Frank, DiLauro, Roberto, Grüters, Annette

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Vitamin D supplementation after the second year of life: joint position of the Committee on Nutrition, German Society for Pediatric and Adolescent Medicine (DGKJ e.V.), and the Ger... 由 Reinehr, Thomas, Schnabel, Dirk, Wabitsch, Martin, Bechtold-Dalla Pozza, Susanne, Bührer, Christoph, Heidtmann, Bettina, Jochum, Frank, Kauth, Thomas, Körner, Antje, Mihatsch, Walter, Prell, Christine, Rudloff, Silvia, Tittel, Bettina, Woelfle, Joachim, Zimmer, Klaus-Peter, Koletzko, Berthold

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Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies 由 Ferreira, Carlos R, Kintzinger, Kristina, Hackbarth, Mary E, Botschen, Ulrike, Nitschke, Yvonne, Mughal, M Zulf, Baujat, Genevieve, Schnabel, Dirk, Yuen, Eric, Gahl, William A, Gafni, Rachel I, Liu, Qing, Huertas, Pedro, Khursigara, Gus, Rutsch, Frank

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