Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency

per Zorn, Stefanie, von Schnurbein, Julia, Kohlsdorf, Katja, Denzer, Christian, Wabitsch, Martin
Publicat a Mol Cell Pediatr (2020)

A Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma

per Patni, Nivedita, Alves, Crésio, von Schnurbein, Julia, Wabitsch, Martin, Tannin, Grace, Rakheja, Dinesh, Garg, Abhimanyu
Publicat a J Clin Endocrinol Metab (2015)

Lipodystrophy as a Late Effect after Stem Cell Transplantation

per Tews, Daniel, Schulz, Ansgar, Denzer, Christian, von Schnurbein, Julia, Ceccarini, Giovanni, Debatin, Klaus-Michael, Wabitsch, Martin
Publicat a J Clin Med (2021)

Monogenic forms of childhood obesity due to mutations in the leptin gene

per Funcke, Jan-Bernd, von Schnurbein, Julia, Lennerz, Belinda, Lahr, Georgia, Debatin, Klaus-Michael, Fischer-Posovszky, Pamela, Wabitsch, Martin
Publicat a Mol Cell Pediatr (2014)

Long-Term Stabilization Effects of Leptin on Brain Functions in a Leptin-Deficient Patient

per Frank, Sabine, Heni, Martin, Moss, Anja, von Schnurbein, Julia, Farooqi, Sadaf, Häring, Hans-Ulrich, Fritsche, Andreas, Preissl, Hubert, Wabitsch, Martin
Publicat 2013

Functional and Phenotypic Characteristics of Human Leptin Receptor Mutations

per Nunziata, Adriana, Funcke, Jan-Bernd, Borck, Guntram, von Schnurbein, Julia, Brandt, Stephanie, Lennerz, Belinda, Moepps, Barbara, Gierschik, Peter, Fischer-Posovszky, Pamela, Wabitsch, Martin
Publicat a J Endocr Soc (2018)

Leptin Is Not Essential for Obesity-Associated Hypertension

per von Schnurbein, Julia, Manzoor, Jaida, Brandt, Stephanie, Denzer, Friederike, Kohlsdorf, Katja, Fischer-Posovszky, Pamela, Weißenberger, Mario, Frank-Podlech, Sabine, Mahmood, Saqib, Wabitsch, Martin
Publicat a Obes Facts (2019)

Serum IGF1 and linear growth in children with congenital leptin deficiency before and after leptin substitution

per Beghini, Marianna, Brandt, Stephanie, Körber, Ingrid, Kohlsdorf, Katja, Vollbach, Heike, Lennerz, Belinda, Denzer, Christian, Shalitin, Shlomit, Santini, Ferruccio, Blum, Werner F., von Schnurbein, Julia, Wabitsch, Martin
Publicat a Int J Obes (Lond) (2021)

Measurement of immunofunctional leptin to detect and monitor patients with functional leptin deficiency

per Wabitsch, Martin, Pridzun, Lutz, Ranke, Michael, von Schnurbein, Julia, Moss, Anja, Brandt, Stephanie, Kohlsdorf, Katja, Moepps, Barbara, Schaab, Michael, Funcke, Jan-Bernd, Gierschik, Peter, Fischer-Posovszky, Pamela, Flehmig, Bertram, Kratzsch, Jürgen
Publicat a Eur J Endocrinol (2016)

Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene

per Wabitsch, Martin, Funcke, Jan-Bernd, von Schnurbein, Julia, Denzer, Friederike, Lahr, Georgia, Mazen, Inas, El-Gammal, Mona, Denzer, Christian, Moss, Anja, Debatin, Klaus-Michael, Gierschik, Peter, Mistry, Vanisha, Keogh, Julia M., Farooqi, I. Sadaf, Moepps, Barbara, Fischer-Posovszky, Pamela
Publicat a J Clin Endocrinol Metab (2015)

The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline

per Brown, Rebecca J., Araujo-Vilar, David, Cheung, Pik To, Dunger, David, Garg, Abhimanyu, Jack, Michelle, Mungai, Lucy, Oral, Elif A., Patni, Nivedita, Rother, Kristina I., von Schnurbein, Julia, Sorkina, Ekaterina, Stanley, Takara, Vigouroux, Corinne, Wabitsch, Martin, Williams, Rachel, Yorifuji, Tohru
Publicat a J Clin Endocrinol Metab (2016)

European lipodystrophy registry: background and structure

per von Schnurbein, Julia, Adams, Claire, Akinci, Baris, Ceccarini, Giovanni, D’Apice, Maria Rosaria, Gambineri, Alessandra, Hennekam, Raoul C. M., Jeru, Isabelle, Lattanzi, Giovanna, Miehle, Konstanze, Nagel, Gabriele, Novelli, Giuseppe, Santini, Ferruccio, Santos Silva, Ermelinda, Savage, David B., Sbraccia, Paolo, Schaaf, Jannik, Sorkina, Ekaterina, Tanteles, George, Vantyghem, Marie-Christine, Vatier, Camille, Vigouroux, Corinne, Vorona, Elena, Araújo-Vilar, David, Wabitsch, Martin
Publicat a Orphanet J Rare Dis (2020)