Results 11 to 20 of about 1,134,753 (94)

Hermansky-Pudlak syndrome [PDF]

Der Ophthalmologe, 2013
A 1-year-old female child suffering from nystagmus and abnormal head posture (AHP) was presented by the parents in our clinic. The family history revealed the presence of von Willebrand's disease in both parents. General examination showed a female child
Atili, A., Luebke, Jennifer, Shoukier, Moneef, Schittkowski, Michael P.   +3 more
core   +6 more sources

Hermansky-Pudlak Syndrome: A Case Report [PDF]

Case Reports in Hematology, 2014
Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention.
Irfan Kuku, Mehmet Ali Erkurt, Emin Kaya, Ilknur Nizam, Ilhami Berber, Mehmet Gul, Recep Bentli, Mustafa Koroglu   +7 more
core   +6 more sources

Hermansky–Pudlak Syndrome [PDF]

Seminars in Respiratory and Critical Care Medicine, 2020
AbstractHermansky–Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease
Wilfredo, De Jesus Rojas, Lisa R, Young
  +6 more sources

Síndrome de Hermansky - Pudlak

Brazilian Journal of Health Review, 2022
Introdução: a síndrome de hermansky – pudlak é uma doença genética caracterizada por albinismo oculocutâneo, disfunção plaquetária, e em alguns casos também há colite, insuficiência renal e fibrose pulmonar. Apresentação do caso: paciente, 4 anos, buscou atendimento para investigação de episódios frequentes de gengivorragia, epistaxe e hematomas nos ...
Sá, Jônatas Ferreira de, Freitas, Yago José Fagundes de, Amorim, Gabriela Echenique, Franco, Natália Rezende, Nakao, Rodrigo Lima, Kakumoto, Marília Alves, Sá, Jana Lopes de, Silva, Sabrina de Castro, Rodrigues, Thais Morais, Neme, Thais Helena Paro, Salgado, Uanda Beatriz Pereira, Velasco, Júlia Sanches de, Teston, Victória Maria Grandeaux, Filho, Robson Pierre Pacífico Alves, Dantas, Camila Pizarro, Sousa, João Rafael Alencar de, Chagas, Jaqueline Maria de Azevedo, Cipriano, Fernando Neves, Mocellin, Amanda Pereira, Fonseca, Abner Lourenço da, Braga, Aline Almeida, Pacheco, Camila Graziele Fontes, Pereira, Franciely dos Passos, Santos, Jordânia   +23 more
openaire   +2 more sources

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. [PDF]

, 2002
Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dilution and prolonged bleeding time. At least 15 mutant mouse strains have been classified as models of Hermansky-Pudlak syndrome.
Nguyen, T, Peters, L L, Fluhr, J, Kermani, M, Novak, E K, Swank, R T, Wei, M L   +6 more
core   +2 more sources

Technical Note: The Use of RNA-interference as a Tool to Find Proteins Involved in Melanosome Formation or Transport [PDF]

, 2009
Melanosomes are lysosome-related organelles that produce and transport the pigment melanin within melanocytes. Mutations in proteins required for melanosome transport and formation lead to a range of pigmentation defects, manifested at the cellular level
Daniela Rotin, Eva M. Amsen
core   +1 more source

Characterization of Melanosomes in Murine Hermansky–Pudlak Syndrome: Mechanisms of Hypopigmentation [PDF]

, 2004
The Hermansky–Pudlak syndrome is a genetically heterogeneous autosomal recessive disorder affecting mice and humans, which causes oculocutaneous albinism, prolonged bleeding, and in some cases, pulmonary fibrosis or granulomatous colitis.
Wei, Maria L., Nguyen, Thuyen
core   +1 more source

Fetal pulmonary fibrosis due to Hermanski-Pudlak syndrome (HPS): a rare case report with open lung biopsy findings

, 2020
Hermanski-Pudlak Syndrome (HPS) is an extremely rare autosomal recessive disorder. Albinism, bleeding diathesis and other associated complications are the main manifestations of HSP.
Aligolighasemabadi, Farnaz, Sadeghdoust, Mohammadamin, Alavi Foumani, Ali, Aligolighasemabadi, Neda   +3 more
core   +1 more source

Recurrent Perianal Abscess in a Patient With Hermansky-Pudlak Syndrome Associated Granulomatous Colitis: A Case Report [PDF]

, 2021
Hermansky-Pudlak syndrome (HPS) is a rare genetic disease consisting of the triad of oculocutaneous albinism, bleeding diathesis, and pigmented reticuloendothelial cells.
UPRAK, TEVFİK KIVILCIM
core   +1 more source

Hermansky–Pudlak Syndrome a Case Report [PDF]

, 2015
We report a case of Hermansky –Pudlak syndrome in a 34 year old lady who was born of non consanguineous marriage The incidence of HPS is highest in Puerto Rico.There are increasing reports of HPS among Indians.
Grace, Mary, P, Arun, V K, Shameer, Akhilesh, Akhilesh   +3 more
core   +1 more source