نتایج جستجو برای: tyrosinemia type ii

تعداد نتایج: 1796109  

Journal: :Proceedings of the National Academy of Sciences 1977

A. Habibi Rad, M. Emadi, N. R. Arghami,

In this article, we use a measure of expected true evidence for determine the required sample size in type-II censored experiments for obtaining statistical evidence in favor of one hypothesis about the exponential mean against another.

Journal: :The Journal of clinical investigation 2011
Prashiela Manga Seth J Orlow

Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1-OCA4) that result from disruption in production of melanin from tyrosine. Current treatment options for individuals with OCA are lim...

2017
Li Li Quanjun Zhang Huaqiang Yang Qingjian Zou Chengdan Lai Fei Jiang Ping Zhao Zhiwei Luo Jiayin Yang Qian Chen Yan Wang Philip N. Newsome Jon Frampton Patrick H. Maxwell Wenjuan Li Shuhan Chen Dongye Wang Tak-Shing Siu Sidney Tam Hung-Fat Tse Baoming Qin Xichen Bao Miguel A. Esteban Liangxue Lai

Hereditary tyrosinemia type 1 (HT1) is a severe human autosomal recessive disorder caused by the deficiency of fumarylacetoacetate hydroxylase (FAH), an enzyme catalyzing the last step in the tyrosine degradation pathway. Lack of FAH causes accumulation of toxic metabolites (fumarylacetoacetate and succinylacetone) in blood and tissues, ultimately resulting in severe liver and kidney damage wit...

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