Muller Journal of Medical Sciences and Research, 2014 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment. Interstitial lung disease may also accompany with the disease. Cases are mainly found among individuals with Puerto Rican ancestry.
Prabodh Panchadhyayee +4 more
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Novel strategies in the approach to primary immunodeficiencies to discover new pathogenic mechanisms and complex clinical phenotypes [PDF]
, 2016 Primary immunodeficiency disorders (PIDs) represent a heterogeneous group of inherited disorders characterized by poor or absent function in one or more components of the immune system, that result in chronic, recurrent and life-threatning infections if ...
Giardino, Giuliana
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The Shared Genetic Architecture of Modifiable Risk for Dementia and its Influence on Brain Health [PDF]
, 2022 Targeting modifiable risk factors for dementia may prevent or delay dementia. However, the mechanisms by which risk factors influence dementia remain unclear and current research often ignores commonality between risk factors.
Foote, I
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Similar Alterations of the Stratum Corneum Ceramide Profile in Atopic Dermatitis, Psoriasis, and Ichthyosis::Results from a Systematic Review and Meta-Analysis [PDF]
Drug Delivery ...
Bouwstra, Joke A. +7 more
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Trudności i odrębności postępowania diagnostyczno-leczniczego w nieswoistych chorobach zapalnych jelit u dzieci [PDF]
, 2016 Nieswosite choroby zapalne jelit (NChZJ) to narastający problem w pediatrii. U dzieci częściej niż u dorosłych obserwuje się aktywną postać choroby Leśniowskiego-Crohna (ChLC) i częściej konieczna jest immunosupresja.
Albrecht, Piotr
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, 2020 Hermanski-Pudlak Syndrome (HPS) is an extremely rare autosomal recessive disorder. Albinism, bleeding diathesis and other associated complications are the main manifestations of HSP.
Alavi Foumani, Ali +3 more
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Trastornos plaquetarios cualitativos (1) trombocitopatias congénitas. Revisión [PDF]
, 2013 Los avances obtenidos en el estudio del comportamiento de las plaquetas durante su participación en la hemostasis, han permitido comprender más profundamente los diferentes mecanismos que intervienen durante la activación plaquetaria; de esta manera, se ...
León, Manuel, Vizcaíno, Gilberto
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Hemophagocytic lymphohistiocytosis arising in a child with Langerhans cell histiocytosis [PDF]
, 2014 Langerhans cell histiocytosis (LCH) is characterized by the proliferation of clonal dendritic cells, while hemophagocytic lymphohistiocytosis (HLH) is an extreme inflammatory process sustained by the uncontrolled activation of macrophages.
Dragana Janic +3 more
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Hermansky–Pudlak syndrome: Mutation update
Human Mutation, 2020 Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor protein-3 (AP-3) and biogenesis of lysosome-related organelles complex-1 (BLOC-1) through -3. All individuals with
Marjan Huizing +9 more
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Adolescente con fatiga: Síndrome hemofagocítico en el Hospital de los Valles durante septiembre del 2019. Caso interactivo para educación médica [PDF]
, 2019 The present case analyzes the evolution of a patient treated in the Internal Medicine / Hematology-Oncology service of the Hospital de los Valles with the final diagnosis of Hemophagocytic Syndrome, suspected due to clinical and laboratories, being ...
Gudiño Vega, Andrés Sebastián
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