Results 91 to 100 of about 1,233,281 (160)

Hermansky-Pudlak syndrome 2 — a novel mutation with factor VII deficiency: a fluke from India

Journal of Rare Diseases
Objective Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and bleeding diathesis with other variable phenotypic features found in some of its subtypes, such as pulmonary fibrosis, colitis ...
Vibha Gupta, Rutvi Gautam Dave, Tulasi Geever, Sukesh C. Nair, Joy Mammen, N. A. Fouzia   +5 more
doaj   +1 more source

Management of Hermansky-Pudlak syndrome in pregnancy and review of literature

, 2016
: We report on the obstetric outcome of a woman aged 27 years with Hermansky-Pudlak syndrome (HPS). She underwent a caesarean section after failed induction of labour. Platelet transfusion was administered in a set schedule for 36 hours, starting 2 hours
Jacquemyn, Yves, Muys, Joke, Van Avermaete, Freya   +2 more
core   +1 more source

Rare genetic interstitial lung diseases: a pictorial essay

European Respiratory Review
The main monogenic causes of pulmonary fibrosis in adults are mutations in telomere-related genes. These mutations may be associated with extrapulmonary signs (hepatic, haematological and dermatological) and typically present radiologically as usual ...
Raphael Borie, Laureline Berteloot, Caroline Kannengiesser, Matthias Griese, Aurelie Cazes, Bruno Crestani, Alice Hadchouel, Marie Pierre Debray   +7 more
doaj   +1 more source

Molecular genetic research of patients with Hermansky-Pudlak-Syndrome and of patients with Glanzmann thrombasthenia

, 2009
Die Thrombozytenaggregation sowie die Granulaspeicherung und -freisetzung der Thrombozyten sind essentielle Bestandteile einer funktionierenden Hämostase.
Schmidt, Kerstin
core  

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

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3 [PDF]

, 2017
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by the triad of tyrosinase-positive oculocutaneous albinism, bleeding diathesis due to storage-pool deficiency of platelets, and a lysosomal ceroid storage disease.
Fukai, Kazuyoshi, Spritz, Richard A., Almodóvar, Carmelo, Frenk, Edgar, Oh, Jangsuk   +4 more
core  

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

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  

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