{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T16:24:31Z","timestamp":1777134271409,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,9,10]],"date-time":"2010-09-10T00:00:00Z","timestamp":1284076800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease (PD) is a metabolic myopathy caused by a deficiency of acid\u2010alpha glucosidase (GAA), a lysosomal enzyme that cleaves glycogen. The classic infantile\u2010onset form is characterised by severe hypotonia and cardiomyopathy. Untreated patients usually die within the first year of life due to cardiorespiratory failure. Several studies involving patients with infantile\u2010onset PD have shown that enzyme replacement therapy (ERT) with alglucosidase alfa, recombinant human GAA (rhGAA), significantly prolongs survival, decreases cardiomegaly, and improves cardiac function and conduction abnormalities. However, the efficacy on motor, cognitive and social milestones appears to be more related to the condition of the patient before the start of treatment. To date, the sample of early diagnosed and treated patients is small and the length of follow\u2010up is still limited. We report the results of a long\u2010term follow\u2010up of one patient presenting severe bradycardia and cardiomyopathy at birth, diagnosed in the third day of life and successfully treated by ERT. Serum muscle enzymes at diagnosis were AST 200 U\/L, ALT 99 U\/L and CPK 731 U\/L (n.v. 0\u2010295); the molecular study identified the homozygous missense mutation <jats:italic>c.1933 G&gt; A p.Asp645Asn<\/jats:italic> (GAA exon 14). Left Ventricular Mass Index (LVMI) at baseline was 171 g\/m<jats:sup>2<\/jats:sup> (Z\u2010score = 4.3) and decreased to normal values since the 3\u2010month follow\u2010up. A muscle biopsy performed at 18 months after the start of therapy, showed only a low degree of muscle involvement. To our knowledge, this is the longest ERT treatment follow\u2010up in a symptomatic neonatal patient with Pompe disease.<\/jats:p>","DOI":"10.1007\/s10545-010-9195-2","type":"journal-article","created":{"date-parts":[[2010,9,9]],"date-time":"2010-09-09T08:20:05Z","timestamp":1284020405000},"page":"389-393","source":"Crossref","is-referenced-by-count":9,"title":["Long\u2010term follow\u2010up results in enzyme replacement therapy for Pompe disease: a case report"],"prefix":"10.1002","volume":"33","author":[{"given":"Monica","family":"Del Rizzo","sequence":"first","affiliation":[{"name":"Division of Metabolic Diseases, Department of Paediatrics University Hospital Padua Via Giustiniani 3 Padua 35128 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Fanin","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University Hospital Padua Padua 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Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corrado","family":"Angelini","sequence":"additional","affiliation":[{"name":"Department of Neurosciences University Hospital Padua Padua Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Giordano","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases, Department of Paediatrics University Hospital Padua Via Giustiniani 3 Padua 35128 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Bordugo","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases, Department of Paediatrics University Hospital Padua Via Giustiniani 3 Padua 35128 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto B.","family":"Burlina","sequence":"additional","affiliation":[{"name":"Division of Metabolic Diseases, Department of Paediatrics University Hospital Padua Via Giustiniani 3 Padua 35128 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,9,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000195896.04069.5f"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2147\/TCRM.S5776"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cccn.2004.04.009"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.03.015"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-3667"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2008.107722"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2006.08.009"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","unstructured":"HamdanMAAlmalikMHMirghaniHMEarly administration of enzyme replacement therapy for Pompe disease: Short\u2010term follow\u2010up results short report #140 OnlineJ Inherit Metab 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