State of the art in muscle glycogenoses

نویسنده

  • C. Angelini
چکیده

The recognition of a series of metabolic/enzymatic dysfunctions in glycogenoses has allowed new therapeutic advances for their treatment due to the development of recombinant enzyme. A recent advance appears enzymatic replacement therapy (ERT) in glycogenosis type II in both infantile, juvenile and adult form. Targeted manipulation of diet has been tried both in glycogenosis type II (Pompe disease) and type V (Mc Ardle disease).

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

McArdle's disease: case report and review of the literature.

McArdle's disease, or myophosphorylase deficiency, is one of the most common muscle glycogenoses and typically presents in childhood or adolescence with exercise intolerance, myalgia, myoglobinuria, and cramps in the exercising muscle. We report the case of a 21-year-old male patient with liver enzyme elevation who had a history of weakness, exercise intolerance, and muscle cramps since childho...

متن کامل

Identification and Prioritization of the State-of-the-Art Technologies in the Management of Iranian Public Libraries

Purpose: State-of-the-art technology refers to the best and latest technological advancement possible at a particular time. Today, public libraries play a key role in the various cultural and social spheres of society. Although various technologies can help to fulfill the basic roles of public libraries correctly and completely, their application in the context of these libraries undoubtedly fa...

متن کامل

Enzyme Immobilization: The State of Art in Biotechnology

The advantages of immobilized enzyme over its soluble counterpart arise from their improved stability andeasy separation from the reaction media, leading to decrease in production cost. Immobilization methodsrange from adsorption onto matrices, entrapment, cross-linking and covalent bonding to prefabricatedcarriers or activated supports. Changes in kinetic properties of immobi...

متن کامل

Topographic - based Model of the Creative Art through Revolutionary Culture in Iran

If we accept this idea that in talking about art, there is a chasm between thought and unthought debating on art theory in the sociohistorical context of after revolutionary Iran requires at least two items in which understanding and creating art meet one another: 1) Art as door separates intelligible from sensible, rational from irrational, and logos from pathos as well and 2) Art as brid...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 29  شماره 

صفحات  -

تاریخ انتشار 2010