Results 81 to 90 of about 1,223,862 (192)

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome

Orphanet Journal of Rare Diseases, 2019
Background Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction and can sometimes lead to a highly aggressive form of pulmonary fibrosis that mimics the fatal lung ...
Ross Summer, Rachana Krishna, DeLeila Schriner, Karina Cuevas-Mora, Dominic Sales, Rachel Para, Jesse Roman, Carl Nieweld, Bernadette R. Gochuico, Freddy Romero   +9 more
doaj   +1 more source

Síndrome de Hermansky-Pudlak: relato de caso/ Hermansky-Pudlak Syndrome: case Report [PDF]

, 2021
INTRODUÇÃO: A síndrome de Hermansky-Pudlak é uma doença rara de origem autossômica recessiva, com baixas incidências mundialmente (1:1000000), exceto em Porto Rico, cuja incidência se aproxima de 1:1800.
Gomes, Julia Bergamini, Vieira, Renata do Couto Gontijo de Deus, Porto, Renato Machado, Faria, Marcelo Ribeiro, Junior, Maurício Jorge Andrade, Braz, Lorenna da Silva, Freitas, Maria Alice Vieira de, Fonseca, Daysa de Carvalho, Santana, Hernani Lopes, Teixeira, Gabriella Waldraff, Pires, Raiza Santos, Araujo, Rejane Estrela, Santos, Claudio Silva, Porto, Jully Miranda, Oliveira, Katia Caetano de   +14 more
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Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3

, 2020
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 human HPS genes, characterized by oculocutaneous albinism (OCA) and bleeding diathesis associated to platelet δ-storage pool defect (SPD).
Femia E. A., Lenz A., Peyvandi F., Artoni A., Zieger B., Lecchi A., Boeckelmann D., La Marca S.   +7 more
core   +2 more sources

Hermansky-Pudlak syndrome

Journal of Osteopathic Medicine, 2022
Austin B. Ambur, Timothy A. Nyckowski
openaire   +2 more sources

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

, 2015
Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available.
Gochuico, B.R., Cullinane, A.R., Candotti, F., Dorward, H., Ikawa, Y., Hess, R., Huizing, M., Gahl, W.A.   +7 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

Hermansky‐Pudlak syndrome [PDF]

British Journal of Haematology, 2007
Mark, Walker, Jeanette, Payne, Bart, Wagner, Ajay, Vora   +3 more
openaire   +2 more sources

Hermansky–Pudlak syndrome with interstitial lung disease: A holistically worked up couplet

Lung India, 2019
Hermansky-Pudlak syndrome (HPS) is an extremely subtile autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction.
Abhishek Gupta, Ketaki Utpat, Unnati Desai, Jyotsna M Joshi   +3 more
doaj   +1 more source

Hermansky-Pudlak Syndrome with a Novel Mutation

Internal Medicine, 2005
We report a case of Hermansky-Pudlak syndrome (HPS) with a novel mutation in the HPS1 gene. This case showed oculocutaneous albinism and lysosomal ceroid accumulation, however platelet dysfunction was not observed. Histopathological findings of the biopsied lung tissue were compatible with HPS. Sequencing analysis showed the insertion of C in the codon
IWAKAWA, Jun, MATSUYAMA, Wataru, WATANABE, Masaki, YAMAMOTO, Masuki, OONAKAHARA, Ken-ichi, MACHIDA, Kentarou, HIGASHIMOTO, Ikkou, NIIYAMA, Takahito, OSAME, Mitsuhiro, ARIMURA, Kimiyoshi   +9 more
openaire   +3 more sources

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
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