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References in periodicals archive ?
The Hermansky-Pudlak syndrome: report of three cases and review of pathophysiology and management considerations.
Hermansky-Pudlak syndrome type 1 is the most common subtype and causes to the most serious phenotype.
Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function.
The facility's goal is to develop and maintain standardized iPSCs lines specific to a variety of rare inherited diseases--not only DBA and JMML, but also dyskeratosis congenita, congenital dyserythropoietic anemia, thrombocytopenia absent radu (TAR), Glanzmann's thrombasthenia and Hermansky-Pudlak syndrome.
They address diseases like Marfan and Goodpasture's syndromes, sarcoidosis, autoimmune pulmonary alveolar proteinosis, hereditary haemorrhagic telangiectasia, Hermansky-Pudlak syndrome, primary ciliary dyskinesia, cystic fibrosis, scleroderma lung disease, and alpha-1 antitrypsin deficiency, and their epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnosis, conventional management and treatment strategies, and future therapies and directions.
Mutations in the binding site of AP3 also cause CN in patients with Hermansky-Pudlak syndrome type 2 (HPS2) [14].
Hermansky-Pudlak syndrome is an autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism, defective lysosomal function in a variety of cell types, cereoid-like deposition in the cells of the reticuloendothelial system, and profound platelet dense granule deficiency.
(a) Abnormalities of adhesion (platelet vessel wall interaction/adhesion) VWD Bernard Soulier syndrome (abnormal or absent GP Ib) Abnormalities of platelet aggregation Congenital afibrinogenemia Glanzmann thrombasthenia (abnormal GP Ilb/IIIa) Disorders of platelet release/signal transduction Storage pool disease Deficient dense bodies Hermansky-Pudlak syndrome Chediak-Higashi syndrome Wiskott-Aldrich syndrome Thrombocytopenia with absent radii Deficient [alpha] granules Gray platelet syndrome Deficiency of [alpha] granules and dense bodies Signal transduction defects Abnormal AA pathways Impaired AA release Cyclooxygenase deficiency Thromboxane synthetase deficiency Abnormalities of platelet membrane response Scott syndrome (a) From Rao (2).
They compared and contrasted the clinical, radiologic, and histologic characteristics of various causes of advanced fibrotic ILD, including connective tissue disease-associated ILD, chronic hypersensitivity pneumonitis, advanced pulmonary Langerhans cell histiocytosis, end-stage pulmonary sarcoidosis, Erdheim-Chester disease, and Hermansky-Pudlak syndrome. The informative tables and representative photomicrographs should serve as a handy reference for practicing pathologists.
The differential diagnosis of granulomatous enteritis includes Histoplasma capsulatum, tuberculosis bacillus (Tb), Hermansky-Pudlak syndrome (HPS), and Crohn's disease (CD).
Dense granule storage pool disorders (S-SPD) can be seen as a singular clinical entity or as part of other hereditary disorders, such as Chediak-Higashi, Hermansky-Pudlak syndrome, thrombo-cytopenia with absent radii (TAR syndrome), or Wiskott-Aldrich syndrome.