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Nutrition, Metabolism, and Cardiovascular Diseases : NMCD|September 12, 2025
The lysosomal acid lipase deficiency spectrum from infancy to adulthood: a multidisciplinary experienceRaffaele Buganza, Riccardo Faletti, Maria Donata Di Taranto, et al.
JPGN Reports|May 11, 2026
Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrheaEleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, et al.
Italian Journal of Pediatrics|November 4, 2020
SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicatorsSilvia Vannelli, Maria Baffico, Raffaele Buganza, et al.
Genes|February 3, 2021
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different PhenotypesAndrea Carpino, Raffaele Buganza, Patrizia Matarazzo, et al.
Children (Basel, Switzerland)|July 2, 2021
Multidisciplinary Approach for Hypothalamic Obesity in Children and Adolescents: A Preliminary StudyDaniele Tessaris, Patrizia Matarazzo, Gerdi Tuli, et al.
Genes|April 27, 2024
Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial HypercholesterolemiaGiovanna Cardiero, Martina Ferrandino, Ilenia Lorenza Calcaterra, et al.
Journal of Endocrinological Investigation|December 5, 2024
Lack of correlation between asprosin serum levels and hyperphagic behavior in subjects with prader-Willi SyndromeMaria Felicia Faienza, Mariangela Chiarito, Alessia Aureli, et al.
International Journal of Molecular Sciences|August 14, 2025
Early Roots of Childhood Obesity: Risk Factors, Mechanisms, and Prevention StrategiesGiuseppina Rosaria Umano, Simonetta Bellone, Raffaele Buganza, et al.
Pediatric Diabetes|September 17, 2020
Cardiovascular risk factors in children and adolescents with type 1 diabetes in Italy: a multicentric observational studyElena Fornari, Claudia Piona, Ivana Rabbone, et al.
Frontiers in Endocrinology|May 13, 2024
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlationSimona F Madeo, Luca Zagaroli, Sara Vandelli, et al.
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