{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T11:34:13Z","timestamp":1776425653454,"version":"3.51.2"},"reference-count":0,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T00:00:00Z","timestamp":1166054400000},"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":[[2007,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>\u03b1\u2010<jats:italic>N<\/jats:italic>\u2010Acetylgalactosaminidase deficiency is a lysosomal disorder with clinically very different infantile and adult forms. To date, 12 patients from eight families are known. Neuroaxonal dystrophy or moderate psychomotor retardation, without visceral involvement, have been reported in the infantile form. We describe a new Spanish patient with Schindler disease who presented with hepatomegaly and cardiomyopathy, traits not previously associated with this disease. There was no dysmorphism or neurological involvement in the patient, who died at the age of 8 months. \u03b1\u2010<jats:italic>N<\/jats:italic>\u2010Acetylgalactosaminidase activity was reduced in fibroblasts and liver to 1.6% and 0.57% of controls, respectively. Several lysosomal enzyme activities associated with infantile cardiomyopathy were found in the normal ranges. The patient was a compound heterozygote for the novel mutation p.D217N (c.649G&gt;A) in exon 6 and the already reported mutation p.E325K (c.973G&gt;A) in exon 8. The description of this new case broadens the clinical spectrum of the infantile forms and indicates that Schindler disease should be considered in the diagnosis of metabolic cardiomyopathies.<\/jats:p>","DOI":"10.1007\/s10545-006-0470-1","type":"journal-article","created":{"date-parts":[[2006,12,14]],"date-time":"2006-12-14T12:47:15Z","timestamp":1166100435000},"page":"108-108","source":"Crossref","is-referenced-by-count":15,"title":["A new infantile case of \u03b1\u2010<i>N<\/i>\u2010acetylgalactosaminidase deficiency. Cardiomyopathy as a presenting symptom"],"prefix":"10.1002","volume":"30","author":[{"given":"A.","family":"Chab\u00e1s","sequence":"first","affiliation":[{"name":"Institut de Bioqu\u00edmica Cl\u00ednica, Hospital Cl\u00ednic Corporaci\u00f3 Sanit\u00e0ria Cl\u00ednic C\/Mej\u00eda Lequerica s\/n, Edifici Helios III Barcelona 08028 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Duque","sequence":"additional","affiliation":[{"name":"Institut de Bioqu\u00edmica Cl\u00ednica, Hospital Cl\u00ednic Corporaci\u00f3 Sanit\u00e0ria Cl\u00ednic C\/Mej\u00eda Lequerica s\/n, Edifici Helios III Barcelona 08028 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Gort","sequence":"additional","affiliation":[{"name":"Institut de Bioqu\u00edmica Cl\u00ednica, Hospital Cl\u00ednic Corporaci\u00f3 Sanit\u00e0ria Cl\u00ednic C\/Mej\u00eda Lequerica s\/n, Edifici Helios III Barcelona 08028 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,14]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0470-1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0470-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:08:00Z","timestamp":1694750880000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0470-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,14]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["10.1007\/s10545-006-0470-1"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0470-1","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,12,14]]}}}