Results 41 to 50 of about 1,230,655 (143)

Case Report Hermansky-Pudlak Syndrome: Report of a Case and Review of the Literature

, 2008
: Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital ...
Matthew T Hurford, Christopher Sebastiano   +1 more
core  

Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking

, 2001
SummaryThe rare autosomal recessive metabolic disorders Hermanky-Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS) share the clinical findings of oculocutaneous albinism and a platelet storage pool deficiency.
Yair Anikster, William Gahl, Marjan Huizing   +2 more
core   +1 more source

Molecular genetic analysis of the DNA of patients with Morbus Glanzmann, Hermansky Pudlak Syndrome and Bernard Soulier Syndrome

, 2009
Die Erkrankungen Morbus Glanzmann, Hermansky Pudlak Syndrom und Bernard Soulier Syndrom sind seltene, autosomal rezessiv vererbte Blutungsstörungen. In dieser Arbeit wurde die DNA von Patienten mit Morbus Glanzmann und Hermansky Pudlak Syndrom mittels ...
Schubart, Christina
core  

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3 [PDF]

BackgroundHermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with phenotypic and genetic heterogeneity, characterized by oculocutaneous albinism, bleeding diathesis, and other specific subtypes such as colitis.
He Wang, Zhu Zhang, Jingqun Mai, Shuo Yang, Shanling Liu, Hao Wang, Bocheng Xu   +6 more
core   +1 more source

Recent advance in Hermansky-Pudlak syndrome [PDF]

, 2007
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, recessively inherited disease characterized by oculocutaneous albinism, hemorrhagic diathesis, pulmonary fibrosis and granulomatous colitis.
Oiso, Naoki
core   +1 more source

Pulmonary and Intestinal Involvement in a Patient with Myeloperoxidase-specific Antineutrophil Cytoplasmic Antibody-positive Hermansky-Pudlak Syndrome. [PDF]

Intern Med, 2023
Tokito T, Sakamoto N, Ishimoto H, Okuno D, Miyamura T, Hara A, Kido T, Yamamoto K, Yamaguchi H, Obase Y, Akazawa Y, Okamura K, Suzuki T, Ishimatsu Y, Mukae H.   +14 more
europepmc   +1 more source

Role of the PAR4 Thrombin Receptor in Stabilizing Platelet-platelet Aggregates as Revealed by a Patient with Hermansky-Pudlak Syndrome

, 2002
SummaryIndividuals with Hermansky-Pudlak Syndrome (HPS) lack platelet dense granules and have no ADP-autocrine response. Despite these platelet deficiencies, HPS patients exhibit a surprisingly mild bleeding phenotype.
Christopher Singh, Athan Kuliopulos, Lidija Covic, Hedy Smith   +3 more
core   +1 more source

Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome. [PDF]

Genes (Basel), 2022
Chen C, Wang R, Yuan Y, Li J, Yu X.
europepmc   +1 more source

Hermansky-Pudlak Syndrome in the United States

CHEST
Abstract Rationale: Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive condition caused by mutations that disrupt the trafficking of essential proteins within cells. It is characterized by oculocutaneous albinism, bleeding diathesis, and involvement of other organs.
Engel, Andrew, Summer, Ross, Roman, Jesse   +2 more
openaire   +3 more sources

Pearls of Wisdom for Pulmonary Fibrosis

, 2011
Chronic inflammation mediated by alveolar epithelial cells through macrophages may contribute to the development of lung fibrosis in Hermansky Pudlak syndrome patients.
Anthony K. Shum
core   +1 more source