Results 21 to 30 of about 291 (129)
Hermansky-Pudlak Syndrome: A Case Report [PDF]
Case Reports in Hematology, 2014 Objective.The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis.Clinical Presentation and Intervention.A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis.
İlhami Berber +7 more
openaire +3 more sources
Estudio fenotípico, funcional y molecular de inmunodeficiencias con defectos de citotoxicidad y predisposición a infecciones virales y tumores [PDF]
, 2017 La respuesta del sistema inmunológico frente a infecciones víricas y tumores está basada en mecanismos inespecíficos (respuesta innata) y específicos(respuesta adaptativa) y en ella intervienen numerosos mediadores solubles y celulares.
Ruiz García, Raquel
core +1 more source
New developments on the pathogenesis of systemic lupus erythemstosus [PDF]
, 2016 Tese de doutoramento, Medicina (Pediatria), Universidade de Lisboa, Faculdade de Medicina, 2018Systemic Lupus Erythematosus (SLE) is a challenging autoimmune disease, with a complex etiopathogenesis and an unpredictable clinical course. In a large cohort
Reis, Ana Patrícia Costa
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Hermansky‐Pudlak syndrome [PDF]
British Journal of Haematology, 2007 Mark, Walker +3 more
openaire +2 more sources
Medicine, 1985 Three Puerto Rican siblings with the Hermansky-Pudlak syndrome are described, and the literature on this syndrome is reviewed with regard to clinical factors, pathology, pathophysiology, and management of the disorder. The three patients all manifested oculocutaneous albinism and platelet storage pool disease with a moderate bleeding tendency.
RONALD A. DEPINHO, KAREN L. KAPLAN
openaire +1 more source
Understanding the lack of equality and diversity in the parenting population [PDF]
Despite great advances in the acceptability of diverse family forms, strong social norms that parents are typically nondisabled opposite-sex couples still prevail.
Pinkard, Christine
core
Setting priorities and reducing uncertainties for the treatment of vitiligo [PDF]
Vitiligo is the most common skin disorder resulting in depigmentation, but high-quality research is lacking. A Cochrane review of interventions for vitiligo published in 2010 highlighted methodological limitations with existing trials; which have ...
Eleftheriadou, Viktoria
core
Pulmonary and Intestinal Involvement in a Patient with Myeloperoxidase-specific Antineutrophil Cytoplasmic Antibody-positive Hermansky-Pudlak Syndrome. [PDF]
Intern Med, 2023 Tokito T +14 more
europepmc +1 more source
Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome. [PDF]
Genes (Basel), 2022 Chen C, Wang R, Yuan Y, Li J, Yu X.
europepmc +1 more source