Enzyme Replacement Therapy in an Infant with Pompe's Disease with Severe Cardiomyopathy
dc.contributor.author | Tanzer, F. | |
dc.contributor.author | Buyukkayhan, D. | |
dc.contributor.author | Mutlu, E. Cansu | |
dc.contributor.author | Korkmaz, F. Kalender | |
dc.date.accessioned | 2019-07-27T12:10:23Z | |
dc.date.accessioned | 2019-07-28T10:13:58Z | |
dc.date.available | 2019-07-27T12:10:23Z | |
dc.date.available | 2019-07-28T10:13:58Z | |
dc.date.issued | 2009 | |
dc.identifier.issn | 0334-018X | |
dc.identifier.issn | 2191-0251 | |
dc.identifier.uri | https://hdl.handle.net/20.500.12418/10013 | |
dc.description | WOS: 000275091200011 | en_US |
dc.description | PubMed ID: 20333876 | en_US |
dc.description.abstract | Pompe's disease is a glycogen storage disease (type II) characterized by inherited autosomal recessive transmission. A 4 month-old girl presented with rapid disease progression, exhibiting severe hypotonia, and hypertrophic cardiomyopathy, progressing to respiratory failure by the age of 9 months. Despite its low incidence, infantile Pompe's disease is lethal. The availability of an effective treatment has created an urgent need to improve knowledge and early diagnosis of this disease. The clinical response is variable from patient to patient with a better effect in patients enrolled earlier. The only clinically available therapy for Pompe's disease is enzyme replacement therapy (ERT). Gene therapy is still not available for Pompe's disease due to lack of suitable vectors for long-term and tissue-specific expression. Recombinant human alpha-glucosidase remains a hope for patients. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | WALTER DE GRUYTER GMBH | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Pompe's disease | en_US |
dc.subject | infancy | en_US |
dc.subject | enzyme replacement | en_US |
dc.title | Enzyme Replacement Therapy in an Infant with Pompe's Disease with Severe Cardiomyopathy | en_US |
dc.type | article | en_US |
dc.relation.journal | JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | en_US |
dc.contributor.department | [Buyukkayhan, D.] Cumhuriyet Univ, Sch Med, Dept Neonatol, Fac Med, TR-58140 Sivas, Turkey -- [Tanzer, F.] Cumhuriyet Univ, Fac Med, Dept Pediat Metab, TR-58140 Sivas, Turkey -- [Mutlu, E. Cansu -- Korkmaz, F. Kalender] Cumhuriyet Univ, Fac Med, Dept Gen Pediat, TR-58140 Sivas, Turkey | en_US |
dc.identifier.volume | 22 | en_US |
dc.identifier.issue | 12 | en_US |
dc.identifier.endpage | 1162 | en_US |
dc.identifier.startpage | 1159 | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
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