{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:20:36Z","timestamp":1789179636292,"version":"build-2803163510"},"reference-count":0,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,4,1]],"date-time":"2005-04-01T00:00:00Z","timestamp":1112313600000},"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":[[2005,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>This paper describes the second patient found to be affected with a deficiency of transaldolase (TALDO1; EC 2.2.1.2). Clinically, this patient presented in the neonatal period with several signs of severe liver failure: severe coagulopathy, low serum protein, elevated blood ammonia, and hypoglycaemia. She had generalized oedema, moderate muscular hypotonia, and dysmorphic signs. Liver size was decreased, and the spleen was moderately enlarged. There was severe cardiomegaly. The clinical course was characterized by intractable liver failure and progressive myocardial hypertrophy. The child died at the age of 18 days from respiratory failure. In urine, elevations of erythritol, arabitol and ribitol were found, suggesting a deficiency of transaldolase. Enzyme studies in cultured fibroblasts showed undetectable transaldolase activity. DNA sequence analysis of the TALDO1 gene showed a homozygous missense mutation (575G&gt;A), resulting in an amino acid alteration at position 192 (arginine to histidine, R192H). This amino acid is part of the catalytic site of the transaldolase protein. Discovery of this second patient affected with transaldolase deficiency and liver failure suggests that this disorder has a heterogenous clinical presentation with highly variable severity.<\/jats:p>","DOI":"10.1007\/s10545-005-5261-6","type":"journal-article","created":{"date-parts":[[2005,5,4]],"date-time":"2005-05-04T09:14:17Z","timestamp":1115198057000},"page":"169-179","source":"Crossref","is-referenced-by-count":56,"title":["A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency"],"prefix":"10.1002","volume":"28","author":[{"given":"N. M.","family":"Verhoeven","sequence":"first","affiliation":[{"name":"Metabolic Laboratory, Department of Clinical Chemistry VU University Medical Center  Amsterdam The Netherlands"},{"name":"Metabolic Laboratory, Department of Clinical Chemistry VU University Medical Center  De Boelelaan 1117 Amsterdam 1081 HV The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Wallot","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Neurology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. H. J.","family":"Huck","sequence":"additional","affiliation":[{"name":"Metabolic Laboratory, Department of Clinical Chemistry VU University Medical Center  Amsterdam The Netherlands"},{"name":"Department of Child Neurology VU University Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Dirsch","sequence":"additional","affiliation":[{"name":"Department of Pathology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ballauf","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Neurology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Neudorf","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Neurology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. S.","family":"Salomons","sequence":"additional","affiliation":[{"name":"Metabolic Laboratory, Department of Clinical Chemistry VU University Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. S.","family":"van der Knaap","sequence":"additional","affiliation":[{"name":"Department of Child Neurology VU University Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Voit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Pediatric Neurology University Hospital Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Jakobs","sequence":"additional","affiliation":[{"name":"Metabolic Laboratory, Department of Clinical Chemistry VU University Medical Center  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,4]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-5261-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T23:25:06Z","timestamp":1694820306000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-5261-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["10.1007\/s10545-005-5261-6"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-5261-6","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4]]}}}