GLUCOGENOSIS PEDIATRIA PDF

Introduction: Infantile-onset Pompe disease is a kind of glycogenosis resulting from a deficit of the enzyme acid alpha-glucosidase. Before specific enzyme replacement therapy ERT became available, the classic form was fatal during the first two years of life. ERT increases survival and improves cardiac, respiratory and motor functioning. Case reports: Case 1: 2-month-old infant with predominantly axial hypotonia who required the use of a nasogastric tube as a result of difficulties in sucking and swallowing. Myopathy and hypertrophic cardiomyopathy were observed.

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Neurology ; Fabry Disease: Enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta ; Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology ;68 2 Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome. Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. Paediatr Anaesth ; Effects of etomidate on the cardiac papillary muscle of normal hamsters and those with cardiomyopathy.

Anesthesiology ;

HONEYWELL C7012E PDF

2009, NĂºmero 3

The Spanish Association of Pediatrics has as one of its main objectives the dissemination of rigorous and updated scientific information on the different areas of pediatrics. Annals of Pediatrics is the Body of Scientific Expression of the Association and is the vehicle through which members communicate. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. CiteScore measures average citations received per document published. Read more.

ENDOPROTEZA STAWU BIODROWEGO REHABILITACJA PDF

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The Spanish Association of Pediatrics has as one of its main objectives the dissemination of rigorous and updated scientific information on the different areas of pediatrics. Annals of Pediatrics is the Body of Scientific Expression of the Association and is the vehicle through which members communicate. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. CiteScore measures average citations received per document published. Read more. SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal's impact.

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