juvenile pompe
نویسندگان
چکیده
how to cite this article: tonekaboni s.h. juvenile pompe. iran j child neurol autumn 2012; 6:4 (suppl. 1):10. pls see pdf.
منابع مشابه
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.
Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-u...
متن کاملPompe disease
Pompe disease is an autosomal recessive condition with an incidence of around 1 in 40,000 in the general population, and is caused by a deficiency of the enzyme acid alphaglucosidase. Clinical features occur due to the deposition and accumulation of glycogen within lysosomes, most notably those within the cardiac and skeletal muscles. The extent of this enzyme deficiency affects both the age of...
متن کاملPregnancy in Pompe disease
Pregnancy in Pompe disease is still a rare event. Only few reports have been published. Physiological changes of pregnancy may be aggravated by Pompe disease or vice versa. Both may pose a risk for the mother and the unborn child. This talk outlines physiological changes of the cardiovascular, respiratory and hormonal system during pregnancy and delineates the impact on a 36-year-old Pompe pati...
متن کاملFamilial Pompe Disease
INTRODUCTION Pompe disorder is a rare glycogen storage disorder that is due to a deficiency of the lysosomal alpha glycosidase enzyme. The heart, skeletal muscle, liver and nervous system can be affected from the lysosomal glycogen accumulation. Symptoms such as muscle weakness, hypotony, myopathy and respiratory failure develop. The onset may be at the infantile, adolescent or adult period dep...
متن کاملPompe disease gene therapy.
Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of disease exists from hypotonia and severe cardiac hypertrophy in the first few months of life due to severe mutations to a milder form with the onset of symptoms in adulthood....
متن کاملLate-Onset Pompe Disease (Juvenile-Onset Form) with Elevated CK, Fatigue, and Muscular Pain After Exercise, Without Weakness.
An 11-year-old Caucasian female, the fi rst child born to healthy unrelated parents after a normal gestation and parturition, had adequate neuropsychomotor development. At the age of 10 years she was diagnosed with mononucleosis. Laboratory investigations demonstrated elevated AST/ALT. These investigations were repeatedly carried out, and AST/ALT remained elevated. The girl complained of body p...
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عنوان ژورنال:
iranian journal of child neurologyجلد ۶، شماره ۴، صفحات ۱۰-۰
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