Results 21 to 30 of about 1,230,655 (143)
Treatment of Hermansky-Pudlak syndrome Associated granulomatous colitis with anti-TNF agents: case series and review of literature [PDF]
, 2019 Hermansky-Pudlak syndrome is a rare syndrome characterized by bleeding diathesis due to platelet dysfunction, oculocutaneous albinism and other systemic involvements.
Coskun Ozer Demirtas +4 more
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Innate immunity defects in Hermansky-Pudlak type 2 syndrome
, 2006 Adaptor protein-3 (AP-3) is an ubiquitous cytoplasmic complex that shuttles cargo proteins from the trans-Golgi and a tubular-endosomal compartment to endosome- lysosome–related organelles. Lack of the _3A subunit of this complex causes Hermansky-Pudlak
PAROLINI S +42 more
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Pancreatic Involvement in Hermansky–Pudlak Syndrome- A Case Report [PDF]
, 2019 Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder that presents with oculocutaneous albinism, bleeding disorders, and immunodeficiency. Granulomatous colitis and pulmonary fibrosis are two major complications of this syndrome.
Kumar, Vinesh +6 more
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Síndrome de Hermansky - Pudlak : Hermansky-Pudlak Syndrome [PDF]
, 2022 Introdução: a síndrome de hermansky – pudlak é uma doença genética caracterizada por albinismo oculocutâneo, disfunção plaquetária, e em alguns casos também há colite, insuficiência renal e fibrose pulmonar. Apresentação do caso: paciente, 4 anos, buscou
Pacheco, Camila Graziele Fontes +23 more
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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
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Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis
, 2018 Purpose: Limited information is available regarding chronic treatment with pirfenidone, an anti-fibrotic drug. Effects of long-term open-label pirfenidone were evaluated in a small cohort with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive ...
Seward, Samuel L. +9 more
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, 2018 Representative whole-mount electron micrographs of platelets from a patient with Hermansky-Pudlak syndrome (A) and normal platelets (B) are shown (bar = 1 micrometer). Normal platelets contain delta granules (arrows), and platelets from patients with HPS
Ye Cui (2273386) +14 more
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Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome [PDF]
, 2011 We report a child with Hermansky-Pudlak Syndrome (HPS) and chronic kidney disease (stage II) with histological diagnosis of focal segmental glomerulosclerosis (FSGS).
David B. Thomas +4 more
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Hermansky-pudlak syndrome: report of a case and review of the literature.
, 2008 Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital ...
Hurford, Matthew T +1 more
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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
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