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Relevant bibliographies by topics / Sindrome di Prader-Willi

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Academic literature on the topic 'Sindrome di Prader-Willi'

Author: Grafiati

Published: 11 March 2023

Last updated: 31 July 2025

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Journal articles on the topic "Sindrome di Prader-Willi"

1

Toni, Roberto, and Alexander Haumer. "L’epigenetica e la sindrome di Prader-Willi." L'Endocrinologo 17, no. 3 (2016): 167–70. http://dx.doi.org/10.1007/s40619-016-0196-8.

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2

Pajno, Roberta. "La sindrome di Prader Willi: dal neonato all’adulto." L'Endocrinologo 22, no. 3 (2021): 194–200. http://dx.doi.org/10.1007/s40619-021-00861-0.

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3

Dal Bo, Sara, Claudia Muratori, Chiara Nardini, Ilaria Donati, Anna Maria Magistà, and Federico Marchetti. "Neonato piccolo, ipotonico, con difficoltà di alimentazione: pensiamo anche alla sindrome di Temple." Medico e Bambino pagine elettroniche 24, no. 5 (2021): 138–40. http://dx.doi.org/10.53126/mebxxiv138.

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Temple syndrome is a rare imprinting disorder mainly due to maternal uniparental disomy of the chromosome 14. It represents the main differential diagnosis of Silver-Russell and Prader-Willi syndrome. This syndrome is characterized by growth retardation, hypotonia, difficult feeding, development delay and precocious puberty. The absence of congenital pathognomonic malformations and universally recognized screening methodologies make this pathology be underdiagnosed, so the analysis of 14q32 should be evaluated in all cases of intrauterine growth restriction, hypotonia and neonatal feeding diff

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4

Suryawan, Wayan Bikin, Jose RL Batubara, Bambang Tridjaja, and Aman B. Pulungan. "Gambaran Klinis Kriptorkismus di Poliklinik Endokrinologi Anak RS Dr. Cipto Mangunkusumo, Jakarta, Tahun 1998 - 2002." Sari Pediatri 5, no. 3 (2016): 111. http://dx.doi.org/10.14238/sp5.3.2003.111-6.

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Latar belakang: kriptorkismus merupakan kelainan organ seksual lelaki yang seringditemukan. Sampai berapa tahun terapi hormonal dan pembedahan dilakukan masihkontroversial.Tujuan: penelitian ini bertujuan untuk mengetahui umur saat berobat pertama kali, asalrujukan, lokasi testis, peran perabaan, penyakit penyerta, dan peran terapi hormonalpada kriptorkismus.Cara kerja: Penelitian dilakukan secara retrospektif dari semua pasien baru yang didiagnosiskriptorkismus di Poliklinik Endokrinologi Anak RSCM selama 5 tahun (Januari 1998 –Desember 2002).Hasil: diteliti 63 pasien baru, 58 pasien diantara

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5

Mantovani, Giovanna, and Veronica Lotito. "Salute scheletrica nella popolazione adulta con sindrome di Prader-Willi: raccomandazioni cliniche." L'Endocrinologo, May 17, 2023. http://dx.doi.org/10.1007/s40619-023-01278-7.

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Books on the topic "Sindrome di Prader-Willi"

1

Eiholzer, U. La Sindrome Di Prader-willi. S Karger Pub, 2006.

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2

La sindrome di Prader-Willi: Una guida operativa. Junior, 2003.

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