Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage ...
TOPEKA, Kan. (WIBW) - A local family hosted their own version of “Woodstock,” with a meaningful twist. Nearly four years ago, Mike Schirmer’s grandson was diagnosed with Hermansky-Pudlak Syndrome, a ...
Ocean Biomedical Inc. announced it will be targeting its pulmonary fibrosis treatment candidate OCF-203 as a novel therapeutic for fatal pulmonary fibrotic conditions caused by Hermansky-Pudlak ...
A hereditary condition called Hermansky-Pudlak syndrome (HPS) can cause bleeding problems, low vision, albinism and, in some patients, a debilitating lung disease. HPS affects fewer than 1 in 500,000 ...
TOPEKA, Kan. (WIBW) - A local family will open their lawn for a musical event to raise money for a rare genetic disorder. Mike and Brenda Schirmer started the event to raise money for a national ...
Patients with type 2 Hermansky-Pudlak syndrome are immunodeficient. Mutations in AP-3 that prevent movement of lytic granules along microtubules in CD8 + T cells help explain these patients' ...
When Jessica and Alex Geslani were considering adopting a little girl from China last year, the Smithtown couple turned to Donna Appell for her expertise. Not with the adoption process but with a rare ...
Our patients appear to show a new multisystemic clinical variant of HPS with several of the classic HPS complications (nystagmus, strabismus, visual acuity deficiency, diffuse interstitial pulmonary ...
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