Publications
European lipodystrophy registry: background and structure
Orphanet J Rare Dis. 2020 Jan 15; 15(1): 17.
Julia von Schnurbein, Claire Adams, Baris Akinci, Giovanni Ceccarini, Maria Rosaria D’Apice, Alessandra Gambineri, Raoul C M Hennekam, Isabelle Jeru, Giovanna Lattanzi, Konstanze Miehle, Gabriele Nagel, Giuseppe Novelli, Ferruccio Santini, Ermelinda Santos Silva, David B Savage, Paolo Sbraccia, Jannik Schaaf, Ekaterina Sorkina, George Tanteles, Marie-Christine Vantyghem, Camille Vatier, Corinne Vigouroux, Elena Vorona, David Araújo-Vilar, Martin Wabitsch
PMID: 31941540
PMCID: PMC6964101
DOI: 10.1186/s13023-020-1295-y
The Metreleptin Effectiveness and Safety Registry (MEASuRE): concept, design and challenges
Haymond MW, Araújo-Vilar D, Balser J, Lewis JH, Louzado R, Musso C, von Schnurbein J, Wabitsch M; MEASuRE group. The Metreleptin Effectiveness and Safety Registry (MEASuRE): concept, design and challenges. Orphanet J Rare Dis. 2023 May 26;18(1):127.
PMID: 37237416
PMCID: PMC10214317.
DOI: 10.1186/s13023-023-02714-5.
Lipodystrophy Prevalence, „Lipodystrophy-Like Phenotypes,“ and Diagnostic Challenges
Akinci B, von Schnurbein J, Araujo-Vilar D, Wabitsch M, Oral EA. Lipodystrophy Prevalence, „Lipodystrophy-Like Phenotypes,“ and Diagnostic Challenges. Diabetes. 2024 Jul 1;73(7):1039-1042.
PMID: 38900954.
DOI: 10.2337/dbi24-0018.
Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome
Gilio D, Besci O, Guidorizzi NR, Guler MC, Simsir IY, Pelosini C, Ceccarini G, Demir K, Akinci B, Santini F; ECLip (European Consortium of Lipodystrophy); Foss-Freitas MC, Oral EA. Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome. Clin Endocrinol (Oxf). 2025 Jul 16. Epub ahead of print.
PMID: 40671313
DOI: 10.1111/cen.15303
Epidemiological and clinical data from the European
Lipodystrophy Registry
Ceccarini G, Vatier C, Akinci B, Belalem I, Broekema M, Csajbok E, Rosaria D’Apice M, Gambineri A, Heldt K, Heni M, Kleinendorst L, Krause K, Lattanzi G, Miehle K, Palladino L, Prodam F, Santini F, Santos Silva E, Savage DB, Sbraccia P, Scherer T, Sorkina E, Štotl I, Vantyghem MC, Vigouroux C, Vorona E, Araújo-Vilar D, Wabitsch M, Nagel G, von Schnurbein J; ECLip Registry Consortium. Epidemiological and clinical data from the European Lipodystrophy Registry. Eur J Endocrinol. 2025 Oct 30;193(5):685-703.
PMID: 41152002
DOI: 10.1093/ejendo/lvaf214
