{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T02:43:03Z","timestamp":1782355383770,"version":"3.54.5"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[1999,12,1]],"date-time":"1999-12-01T00:00:00Z","timestamp":944006400000},"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":[[1999,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A family of Maltese dogs with malonic aciduria is reported. The propositus presented at 3 years of age with episodes of seizures and stupor with hypoglycaemia, acidosis, and ketonuria. Urinary organic acid assays showed elevated malonic acid without elevation of methylmalonic acid. Cultured fibroblasts had normal malonyl\u2010CoA decarboxylase activity. Treatment with frequent feedings of a low\u2010fat diet high in medium\u2010chain triglycerides resulted in normalization of clinical signs and a resolution of the malonic aciduria. Two full siblings of the propositus had died at a young age of undiagnosed metabolic and neurological disease. Urine organic acid assays were performed on other family members. A half\u2010sister showed mild malonic aciduria and other organic acid changes similar to the propositus, while the mother and half\u2010brother showed mildly elevated ketone bodies. This family suggests further genetic and clinical heterogeneity in the malonic acidurias.<\/jats:p>","DOI":"10.1023\/a:1005635306257","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T23:07:17Z","timestamp":1040512037000},"page":"883-890","source":"Crossref","is-referenced-by-count":9,"title":["Malonic aciduria in Maltese dogs: Normal methylmalonic acid concentrations and malonyl\u2010CoA decarboxylase activity in fibroblasts"],"prefix":"10.1002","volume":"22","author":[{"given":"D. P.","family":"O'Brien","sequence":"first","affiliation":[{"name":"Department of Veterinary Medicine and Surgery University of Missouri  Columbia Missouri, pUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. A.","family":"Barshop","sequence":"additional","affiliation":[{"name":"Veterinary Medical Diagnostic Laboratory University of Missouri  Columbia Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. K.","family":"Faunt","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Surgery University of Missouri  Columbia Missouri, pUSA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. C.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine University of California  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. M.","family":"Gibson","sequence":"additional","affiliation":[{"name":"Comparative Neuromuscular Laboratory, School of Medicine University of California  La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. D.","family":"Shelton","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Oregon Health Sciences University  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1999,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805615"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005371616609"},{"key":"e_1_2_1_4_1","first-page":"236","article-title":"Malonic aciduria in Maltese dogs","volume":"12","author":"Faunt KK","year":"1998","journal-title":"J V et Intern Med"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)33354-X"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005302607897"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496037"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/35.4.587"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711609"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.69.4.433"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711684"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.49.070180.002143"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(94)90091-4"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02237961"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050619"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005635306257","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005635306257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:01:57Z","timestamp":1694750517000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005635306257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,12]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1999,12]]}},"alternative-id":["10.1023\/A:1005635306257"],"URL":"https:\/\/doi.org\/10.1023\/a:1005635306257","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,12]]}}}