Results 111 to 120 of about 1,230,655 (143)

Hermansky–Pudlak Syndrome

Pediatric Dermatology, 1999
O, Dimson, B A, Drolet, N B, Esterly
openaire   +4 more sources

The Hermansky-Pudlak syndrome.

Bulletin de la Societe belge d'ophtalmologie, 1998
The Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism with a haemorrhagic diathesis and the accumulation of ceroid-like material in different tissues. HPS is not an uncommon type of albinism as it was diagnosed in 13.5% (8/59) of our autosomal recessive albinos.
A, Brandt, F, Offner, J, Quatacker, J, Phillipe, F, Meire   +4 more
openaire   +1 more source

[Hermansky-Pudlak syndrome].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 1989
Hermansky-Pudlak syndrome is a hereditary disease with an autosomal recessive mode of inheritance, characterized by the triad of tyrosinase-positive oculocutaneous albinism, a hemorrhagic diathesis resulting from storage pool-deficient platelets, and accumulation of ceroid/lipofuscin-like material in various cells and tissues and in the urine.
openaire   +1 more source

A New Case With Hermansky-Pudlak Syndrome Type 9, a Rare Cause of Syndromic Albinism With Severe Defect of Platelets Dense Bodies

Platelets, 2021
Claudio Plaisant, Mathieu Fiore, Benoit Arveiler   +2 more
exaly  

The Risk of Hemophagocytic Lymphohistiocytosis in Hermansky-Pudlak Syndrome Type 2

Blood, 2013
Edward G Davies, Sebastian F Bode, Udo zur Stadt   +2 more
exaly  

Recent Progress in Lynch Syndrome and Other Familial Colorectal Cancer Syndromes

Ca-A Cancer Journal for Clinicians, 2018
Patrick Boland, Matthew B Yurgelun, Clement Richard Boland   +2 more
exaly  

Genetic Defects and Clinical Characteristics of Patients With a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

New England Journal of Medicine, 1998
Vorasuk Shotelersuk, William A Gahl, Mark L Brantly   +2 more
exaly  

Pulmonary Fibrosis in Hermansky–Pudlak Syndrome

Annals of the American Thoracic Society, 2016
Glenn W Vicary, Jesse Roman, Lisa R. Young   +2 more
exaly  

The Alveolar Epithelium Determines Susceptibility to Lung Fibrosis in Hermansky-Pudlak Syndrome.

American Journal of Respiratory and Critical Care Medicine, 2012
Francis Mccormack, Timothy Scott Blackwell, Gail H Deutsch   +2 more
exaly  

Early Alveolar Epithelial Dysfunction Promotes Lung Inflammation in a Mouse Model of Hermansky-Pudlak Syndrome.

American Journal of Respiratory and Critical Care Medicine, 2011
Elena N Atochina-Vasserman, Michael F Beers, Andrew J. Gow   +2 more
exaly