Results 21 to 30 of about 1,134,753 (94)
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.
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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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The Melanin Pigmentary Disorder in a Family with Hermansky-Pudlak Syndrome [PDF]
, 1982 The albinotic skin and hair of 2 patients with Hermansky-Pudlak syndrome were investigated by light and electron microscopy. Incubation of hairbulbs and epidermis in l-dopa revealed a weak tyrosinase activity.
Lattion, Francis, Frenk, Edgar
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, 2018 Representative computed tomography scan images of the chest from one patient with Hermansky-Pudlak syndrome pulmonary fibrosis showing diffuse bilateral interstitial infiltrates at the time of referral for lung transplantation (A) and 6 years after ...
Ye Cui (2273386) +14 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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Pulmonary Fibrosis in Hermansky–Pudlak Syndrome [PDF]
Annals of the American Thoracic Society, 2016 Abstract Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. More than 50% of cases worldwide are diagnosed on the Caribbean island of Puerto Rico.
Glenn W, Vicary +4 more
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, 2019 Background Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency.
Yasuhiko Takahashi +10 more
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Hermansky-Pudlak syndrome in the peripartum period [PDF]
Obstetric Medicine, 2008 Hermansky-Pudlak syndrome (HPS) is a disease characterized by the triad of oculocutaneous albinism, bleeding diathesis and organ failure secondary to lysosomal accumulation of ceroid lipofuscin. We report the case of a pregnant woman with HPS who had a successful vaginal delivery with the administration of desmopressin.
Iris L, Tong, Ghada, Bourjeily
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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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Monotone Simulations of Nonmonotone Proofs [PDF]
, 2001 We show that an LK proof of size m of a monotone sequent (a sequent that contains only formulas in the basis 4; 3) can be turned into a proof containing only monotone formulas of size mOðlog mÞ and with the number of proof lines polynomial in m: Also we ...
PUDLAK P. +6 more
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