Results 161 to 170 of about 1,223,862 (192)

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

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  

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  

Novel Mutation in Hermansky–Pudlak Syndrome Type 2 With Mild Immunological Phenotype

Platelets, 2013
Gerd Schmitz, Stephan Ehl, Christoph Bidlingmaier   +2 more
exaly  

Hermansky-Pudlak Syndrome (HPS): An Epidemiologic Study

Ophthalmic Paediatrics and Genetics, 1990
Carl J Witkop, C J Witkop
exaly  

Defective Surfactant Secretion in a Mouse Model of Hermansky-Pudlak Syndrome

American Journal of Respiratory Cell and Molecular Biology, 2005
Elena N Atochina-Vasserman, Susan H. Guttentag, Jian-Qin Tao   +2 more
exaly