A novel <i>PGK1</i> mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria
نویسندگان
چکیده
منابع مشابه
A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.
Phosphoglycerate kinase (PGK) deficiency affects three different organs: red blood cells (RBC), the central nervous system, and muscles. Next-generation sequencing identified a hemizygous PGK1 mutation (p.V217I) in a 16-year-old Japanese male patient presenting with intellectual disability and episodes of muscle weakness of unknown etiology. Enzymatic analysis demonstrated slightly lower RBC-PG...
متن کاملwuthering heights and the concept of marality/a sociological study of the novel
to discuss my point, i have collected quite a number of articles, anthologies, and books about "wuthering heights" applying various ideas and theories to this fantastic story. hence, i have come to believe that gadamer and jauss are rightful when they claim that "the individaul human mind is the center and origin of all meaning," 3 that reading literature is a reader-oriented activity, that it ...
15 صفحه اولTwo Cases of Chronic Hemolytic Anemia Associated with Spherocytosis
Two cases of hemolytic anemia with spherocytosis were investigated. lnspite of chronic hemolysis tl::crc was no radiological changes in flat bones. Management and entity of spherocytosis is discussed m detail in this paper.
متن کاملthe investigation of the relationship between type a and type b personalities and quality of translation
چکیده ندارد.
the evaluation of language related engagment and task related engagment with the purpose of investigating the effect of metatalk and task typology
abstract while task-based instruction is considered as the most effective way to learn a language in the related literature, it is oversimplified on various grounds. different variables may affect how students are engaged with not only the language but also with the task itself. the present study was conducted to investigate language and task related engagement on the basis of the task typolog...
15 صفحه اولذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Intractable & Rare Diseases Research
سال: 2017
ISSN: 2186-361X,2186-3644
DOI: 10.5582/irdr.2017.01020