Results 71 to 80 of about 1,233,281 (160)
Hermansky-Pudlak syndrome: a case report and discussion
, 1998 Hermansky-Pudlak syndrome is a rare, inherited, autosomal recessive disease. Diagnosis is based on a triad of signs: oculocutaneous albinism, a hemorrhagic tendency due to a platelet disorder, and an accumulation of lipopigments in different organs ...
Vanhooteghem, O. +4 more
core +1 more source
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
, 2020 Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes.
Fanny Morice Picard +37 more
core +1 more source
A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu +10 more
wiley +1 more source
, 2013 A 1-year-old female child suffering from nystagmus and abnormal head posture (AHP) was presented by the parents in our clinic. The family history revealed the presence of von Willebrand's disease in both parents. General examination showed a female child
Atili, A. +3 more
core +1 more source
Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome
Orphanet Journal of Rare Diseases, 2019 Background Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction and can sometimes lead to a highly aggressive form of pulmonary fibrosis that mimics the fatal lung ...
Ross Summer +9 more
doaj +1 more source
Síndrome de Hermansky-Pudlak: relato de caso/ Hermansky-Pudlak Syndrome: case Report [PDF]
, 2021 INTRODUÇÃO: A síndrome de Hermansky-Pudlak é uma doença rara de origem autossômica recessiva, com baixas incidências mundialmente (1:1000000), exceto em Porto Rico, cuja incidência se aproxima de 1:1800.
Gomes, Julia Bergamini +14 more
core
Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3
, 2020 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in 10 human HPS genes, characterized by oculocutaneous albinism (OCA) and bleeding diathesis associated to platelet δ-storage pool defect (SPD).
Femia E. A. +7 more
core +2 more sources
, 2015 Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available.
Gochuico, B.R. +7 more
core +1 more source
Recent advance in Hermansky-Pudlak syndrome [PDF]
, 2007 Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, recessively inherited disease characterized by oculocutaneous albinism, hemorrhagic diathesis, pulmonary fibrosis and granulomatous colitis.
Oiso, Naoki
core +1 more source
Hermansky–Pudlak syndrome with interstitial lung disease: A holistically worked up couplet
Lung India, 2019 Hermansky-Pudlak syndrome (HPS) is an extremely subtile autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction.
Abhishek Gupta +3 more
doaj +1 more source