Results 101 to 110 of about 1,137,601 (187)

Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome

Egyptian Journal of Medical Human Genetics
Background Hermansky–Pudlak syndrome (HPS) is an uncommon autosomal recessive disease that presents with bleeding diathesis and oculocutaneous albinism (OCA).
Ensiyeh Bahadoran, Mehrzad Ramezani, Sahar Moghbelinejad   +2 more
doaj   +1 more source

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis

, 2004
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. Some patients also develop fatal pulmonary fibrosis and some have granulomatous colitis.
Elisabeth Eppler, Thomas Brack, Eppler, E, Thomas Stallmach, Marjan Huizing, William A. Gahl, Bachli, E B, Trüeb, R M, Ralph M. Trüeb, Brack, T, Huizing, M, Gahl, W A, Esther B. Bachli, Stallmach, T   +13 more
core   +1 more source

Assessment of patient-reported symptoms in Hermansky-Pudlak syndrome. [PDF]

Mol Genet Metab
Zuo MXG, Zuo BLG, O'Brien KJ, Friedman V, Appell D, Gahl WA, Merideth MA, Gochuico BR.   +7 more
europepmc   +1 more source

Anaesthetic Management of Hermansky-Pudlak Syndrome with Major Hemorrhage: Based on a Case Report. [PDF]

Turk J Anaesthesiol Reanim
Akbulut A, Yaylak D, Sincer Y, Gürkan Y.   +3 more
europepmc   +1 more source

Black kidney in Albinism [PDF]

Journal of Nephropathology, 2014
Mohammad-Reza Ardalan
doaj   +1 more source

Early Genotype-Driven Diagnosis of Hermansky-Pudlak Syndrome Type 4 in a Child With Oculocutaneous Albinism: An Ophthalmic Case Report. [PDF]

Cureus
Szabo D, Waldispühl-Geigl J, Kamper S, Pilch H, Plecko B, Vollnhofer K, Posch-Pertl L.   +6 more
europepmc   +1 more source

Hermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-Omics Discovery. [PDF]

Am J Respir Cell Mol Biol
Ghincea A, Herzog EL.
europepmc   +1 more source

Molecular genetic analysis of patients with Bernard Soulier syndrome, Hermansky Pudlak syndrome and Morbus Glanzmann

, 2010
In dieser Dissertation wurden drei hereditäre Krankheiten der primären Hämostase molekulargenetisch untersucht: Bernard-Soulier-Syndrom, Hermansky-Pudlak-Syndrom und Morbus Glanzmann.
Schäfer, Sophie
core  

Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation. [PDF]

Oxf Med Case Reports
Balaraddi V, Nawlakhe K, K S, Bandiya P.
europepmc   +1 more source

Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease. [PDF]

Cureus, 2023
Alhozali H.
europepmc   +1 more source