Pompe Disease Screening in a Sample of Iranian Patients
نویسندگان
چکیده
منابع مشابه
Newborn Screening for Pompe Disease.
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good c...
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Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme. As a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. In Pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...
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BACKGROUND Pompe disease is a rare but potentially treatable metabolic disorder having an estimated worldwide incidence of one in forty thousand live births. While the introduction of enzyme replacement therapy (ERT) has considerably increased the awareness of the disease, the delay in diagnosis is still consistent and most patients go undetected. OBJECTIVE This study aimed to determine the p...
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ژورنال
عنوان ژورنال: ACTA MEDICA IRANICA
سال: 2021
ISSN: 1735-9694,0044-6025
DOI: 10.18502/acta.v59i1.5403