Results 151 to 160 of about 4,832 (184)
Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone. [PDF]
Intern MedOno Y +12 more
europepmc +1 more source
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families. [PDF]
BMC OphthalmolKhan J +11 more
europepmc +1 more source
Novel Hermansky–Pudlak Syndrome Type I Variant in Hermansky–Pudlak Syndrome
Indian Journal of Respiratory CareSandesh S, Sanjay S, Harsha H
openaire +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
II INTERNATIONAL SEVEN MULTIDISCIPLINARY CONGRESS, 2023
Hermansky-Pudlak syndrome (HPS) is considered an uncommon pathology, and this is autosomal recessive and with its first report dated 1959. Although rare, it is relatively common in Puerto Rico, where its prevalence reaches approximately 1 in 1,800 people on the island, representing approximately 50% of all cases worldwide.
Gaik, Christine, Wiesmann, Thomas
openaire +2 more sources
Hermansky-Pudlak syndrome (HPS) is considered an uncommon pathology, and this is autosomal recessive and with its first report dated 1959. Although rare, it is relatively common in Puerto Rico, where its prevalence reaches approximately 1 in 1,800 people on the island, representing approximately 50% of all cases worldwide.
Gaik, Christine, Wiesmann, Thomas
openaire +2 more sources
Annals of Diagnostic Pathology, 1997
Hermansky-Pudlak Syndrome (HPS) is a rare, inheritable disorder characterized by the classic triad of oculo-cutaneous albinism, platelet dysfunction, and ceroid deposition. An associated complication is pulmonary fibrosis with progressive restrictive lung disease.
M S, Parker +6 more
openaire +2 more sources
Hermansky-Pudlak Syndrome (HPS) is a rare, inheritable disorder characterized by the classic triad of oculo-cutaneous albinism, platelet dysfunction, and ceroid deposition. An associated complication is pulmonary fibrosis with progressive restrictive lung disease.
M S, Parker +6 more
openaire +2 more sources