HERMANSKY-PUDLAK SYNDROME AND GRANULOMATOUS BOWEL INFLAMMATION - REVIEW ARTICLE AND CASE REPORT

• Ngā kaituhi matua: Urška Berden (Author), Lidija Kitanovski (Author), Darja Urlep (Author)
• Hōputu: Pukapuka
• I whakaputaina: The Society for Children with Metabolic Disorders, 2022-11-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

Hermansky-Pudlak syndrome (HPS) is a very rare genetically and phenotypically heterogeneous multisystemic disorder. It is mainly caused by impaired trafficking to lysosome-related organelles. Eleven genetic subtypes of HPS are currently recognised. All subtypes share the common phenotypic features o...