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ceroid/kiškiakopūstis

Nuoroda įrašoma į mainų sritį
StraipsniaiKlinikiniai tyrimaiPatentai
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Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome.

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Prisijungti Registracija
BACKGROUND Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder. It consists of a triad of tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding diathesis resulting from platelet dysfunction, and systemic complications associated with accumulation of ceroid lipofuscin.

Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.

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Prisijungti Registracija
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency, and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome-related organelles complex (BLOC). In this study, we

Hermansky-Pudlak syndrome: dental management considerations.

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Prisijungti Registracija
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet dysfunction, and ceroid storage. It is common among the Puerto Rican population and is expected to spread within the United States and other countries. Due to the platelet

DNA diagnosis and management of Hermansky-Pudlak syndrome in pregnancy.

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Prisijungti Registracija
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), platelet storage pool deficiency, and ceroid lipofuscin deposition. Sequelae including pulmonary fibrosis, colitis, and hemorrhagic diathesis can impact obstetric management. An
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal accumulation of ceroid-like material. Seven genetically distinct subtypes of HPS are known in humans; most are rare outside of Puerto Rico. Here, we
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