Results 1 to 10 of about 271 (109)

Hermansky-Pudlak syndrome; a Case Report [PDF]

Journal of Ophthalmic & Vision Research, 2010
Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising.
Abbas Bagheri, Asieh Abdollahi
doaj   +3 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

Hermansky-Pudlak Syndrome [PDF]

Clinics in Chest Medicine, 2016
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4.
Souheil, El-Chemaly, Lisa R, Young
openaire   +2 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

British Association of Dermatologists guidelines for the management of people with vitiligo 2021 [PDF]

, 2022
The overall objective of the guideline is to provide up-to-date, evidence-based recommendations for the management of vitiligo. The document aims to: offer an appraisal of all relevant literature up to May 2019, focusing on any key developments ...
Atkar, R, Batchelor, J., Eleftheriadou, V., Exton, L. S., Hashme, M., Manounah, L., McDonald, B, Mohd Mustapa, M. F., Novakovic, L., Patel, J. V., Ravenscroft, J., Rush, E., Shah, D., Shah, R., Shaw, L., Thompson, A. R.   +15 more
core   +1 more source

Hermansky-Pudlak Syndrome [PDF]

, 2013
Oculocutaneous albinism is classified into non-syndromic oculocutaneous albinism (OCA) and syndromic OCA including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome (CHS) and Griscelli syndrome (GS). Both non-syndromic and syndromic OCAs are autosomal recessive disorders.
Naoki Oiso, Akira Kaw
  +5 more sources

Quantitative analysis of proteins which are members of the same protein complex but cause locus heterogeneity in disease. [PDF]

, 2020
peer reviewedIt is still largely unknown how mutations in different genes cause similar diseases - a condition known as locus heterogeneity. A likely explanation is that the different proteins encoded by the locus heterogeneity genes participate in the ...
Bazzoni, Gianfranco, Gamba, Alessio, Salmona, Mario   +2 more
core   +1 more source

Hermansky-Pudlak-Syndrom

Der Ophthalmologe, 2012
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 with light blond colored skin accompanied by black-haired parents.
Atili, A., Luebke, Jennifer, Shoukier, Moneef, Schittkowski, Michael P.   +3 more
openaire   +3 more sources

CUTANEOUS MANIFESTATIONS OF PRIMARY IMMUNODEFICIENCY DISEASES IN TUNISIAN CHILDREN [PDF]

, 2018
. Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of immunodeficiency.
Fethi Mellouli, Habib Besbes, Imen Ben-Mustapha, mohamed bejaoui, Mohamed Ridha Barbouche, Monia Ben Khaled, Monia Ouederni, Naouel GUIRAT, Ridha Kouki   +8 more
core   +2 more sources

Hermanski-Pudlak Syndrome with Cystic Fibrosis: A Case Report

, 2021
not available DS (Child) H J 2019; 35(1) : 74 ...
- Md Kamruzzaman, Ashikur Zaman, Gulshana Akter, Kanta Halder   +3 more
core   +1 more source