Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

MA Angulo, MG Butler, ME Cataletto - Journal of endocrinological …, 2015 - Springer
Abstract Introduction Prader-Willi syndrome (PWS) is a multisystemic complex genetic
disorder caused by lack of expression of genes on the paternally inherited chromosome …

Growth hormone therapy for Prader–Willi syndrome: challenges and solutions

G Grugni, A Sartorio, A Crinò - Therapeutics and clinical risk …, 2016 - Taylor & Francis
Prader–Willi syndrome (PWS) is characterized by a dysregulation of growth hormone
(GH)/insulin-like growth factor I axis, as the consequence of a complex hypothalamic …

Missed diagnoses and health problems in adults with Prader-Willi syndrome: recommendations for screening and treatment

K Pellikaan, AGW Rosenberg… - The Journal of …, 2020 - academic.oup.com
Abstract Context Prader-Willi syndrome (PWS) is a complex hypothalamic disorder,
combining hyperphagia, hypotonia, intellectual disability, and pituitary hormone …

Hypogonadism in adult males with Prader-Willi syndrome—Clinical recommendations based on a Dutch cohort study, review of the literature and an international …

K Pellikaan, Y Ben Brahim, AGW Rosenberg… - Journal of clinical …, 2021 - mdpi.com
Prader-Willi syndrome (PWS) is a complex genetic syndrome characterized by hyperphagia,
intellectual disability, hypotonia and hypothalamic dysfunction. Adults with PWS often have …

Growth hormone treatment for adults with Prader-Willi syndrome: a meta-analysis

AGW Rosenberg, CGB Passone… - The Journal of …, 2021 - academic.oup.com
Abstract Context Features of Prader-Willi syndrome (PWS) overlap with features of growth
hormone (GH) deficiency, like small hands and feet, short stature, increased body fat, and …

Diagnosis and treatment of GH deficiency in Prader–Willi syndrome

G Grugni, P Marzullo - Best practice & research Clinical endocrinology & …, 2016 - Elsevier
Prader–Willi syndrome (PWS) results from under-expression of the paternally-derived
chromosomal region 15q11-13. Growth failure is a recognized feature of PWS, and both …

The Italian national survey for Prader–Willi syndrome: an epidemiologic study

G Grugni, A Crino, L Bosio, A Corrias… - American Journal of …, 2008 - Wiley Online Library
Twenty‐five medical centers and the Prader–Willi Syndrome (PWS) Association
collaborated on a study which attempted to identify all people with genetically confirmed …

Metabolic syndrome in children with Prader–Willi syndrome: the effect of obesity

P Brambilla, A Crinò, G Bedogni, L Bosio… - Nutrition, Metabolism …, 2011 - Elsevier
BACKGROUND AND AIMS: Prader–Willi syndrome (PWS), the most frequent syndromic
obesity, is associated with elevated morbidity and mortality in pediatric and adult ages. In …

Metabolic syndrome in adult patients with Prader–Willi syndrome

G Grugni, A Crinò, G Bedogni, M Cappa… - Nutrition, Metabolism …, 2013 - Elsevier
Abstract Background and aims Prader–Willi syndrome (PWS), the most common genetic
cause of obesity, is characterized by elevated morbility and mortality in all ages. In this …

Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review

DH van Abswoude, K Pellikaan, N Nguyen… - Frontiers in …, 2023 - frontiersin.org
Background Prader-Willi syndrome (PWS) is a rare, complex, genetic disorder characterized
by hyperphagia, hypotonia, delayed psychomotor development, low muscle mass and …