نتایج جستجو برای: nyhan syndrome

تعداد نتایج: 622040  

2009
JOHN LINTNER

It is in this connection that it becomes very difficult at times for the agricultural scientist and practical agriculturist to meet on common ground, for very often a popular version of scientific reasoning may appear ambiguous, and in this case it would appear better to sacrifice the facile version (since the layman can always get an interpreter to explain if he is sufficiently interested) tha...

Journal: :Clinical genetics 2017
S Takahashi M Matsufuji C Yonee H Tsuru N Sano H Oguni

A heterozygous SLC2A1 mutation in the severely affected child was inherited from his less severely affected mother who was mosaic for the mutation.

پایان نامه :دانشگاه آزاد اسلامی واحد علوم پزشکی تهران - دانشکده علوم پزشکی 1389

هدف: در این مطالعه به بررسی اثر تزریق کورتیکواسترویید در درمان infrapatellar fat pad syndrome در بیماران مراجعه کننده به درمانگاه ارتوپدی بیمارستان امیرالمومنین (ع) تهران در سال 1388 پرداختیم.روش مطالعه: این مطالعه به صورت یک بررسی مداخله ای (interventional) از نوع نیمه تجربی (quasi-experimental) انجام گردیده است. جامعه مورد بررسی شامل 60 نفر از افراد مبتلا به infrapatellar fat pad syndrome بود...

Journal: :The Journal of clinical investigation 2007
Salvatore DiMauro Catarina M Quinzii Michio Hirano

Although it was first described in 1989, our understanding of coenzyme Q10 (CoQ10) deficiency is only now coming of age with the recent first description of the underlying molecular defects. The diverse clinical presentations, classifiable into four major syndromes, raise the question as to whether the deficiencies are primary or secondary. Recent studies, including the one by Mollet, Rötig, an...

Journal: :The Journal of Experimental Medicine 1974
Carlo M. Croce Hilary Koprowski

Subcloning of Simian virus 40 (SV40) T antigen-positive mouse-human hybrids, derived from the fusion of mouse cells deficient in thymidine kinase with SV40-transformed Lesch Nyhan fibroblasts, resulted in their segregation into T antigen-positive and negative subclones. Positive correlation between the presence of human chromosome 7 and the expression of SV40 T antigen was established in the su...

2016
Brendan Nyhan

Misperceptions about politics and health can undermine public debate and distort people’s choices and behavior. Why do people hold these false or unsupported beliefs and why is it so difficult to change their minds? An emerging literature examines the difficulty of correcting false or unsupported beliefs and the reasons for this resistance, but relatively little is known about the sources of mi...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1970
W L Nyhan B Bakay J D Connor J F Marks D K Keele

In women heterozygous for hypoxanthine guanine phosphoribosyl trasferase deficiency, the activity of this enzyme in the erythrocyte is usually normal. In a key kindred two such obligate heterozygotes were also heterozygous for glucose-6-phosphate dehydrogenase types A and B. The AB genotype was confirmed in one by assay of skin fibroblasts. Erythrocytes were exclusively of type B. These observa...

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