نتایج جستجو برای: hereditary diseases

تعداد نتایج: 878763  

Journal: :Internal Medicine 2005

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Journal: :Journal of Ophthalmology 2013

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Journal: :Cureus 2020

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Journal: :The American Journal of Human Genetics 1998

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Journal: :Intractable & Rare Diseases Research 2018

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Journal: :iranian journal of child neurology 0
maryam razzaghy azar department of pediatric endocrinology and metabolism, h. aliasghar hospital, iran university of medical sciences, tehran, iran

how to cite this article: razzaghy azar m. approach to hereditary storage diseases in patients with hepatosplenomegaly. iran j child neurol. 2015 autumn;9:4(suppl.1): 18-19.   pls see pdf.

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2017
Mitsuhiko Aiso Minami Yagi Atsushi Tanaka Kotaro Miura Ryo Miura Toshihiko Arizumi Yoriyuki Takamori Sayuri Nakahara Yoshihiro Maruo Hajime Takikawa

We experienced a case of a 19-year-old man with Gilbert syndrome with concomitant hereditary spherocytosis. The patient presented with moderate unconjugated hyperbilirubinemia, and inherited etiology was strongly suspected. The diagnosis of Gilbert syndrome was confirmed by the genetic analysis of the UGT1A1 gene, demonstrating UGT1A1*28 and compound heterozygote UGT1A1*6. In addition, since th...

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Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1984

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Journal: :Physical and rehabilitation medicine, medical rehabilitation 2019

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Journal: :Acta Ophthalmologica 2017

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