{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T01:55:06Z","timestamp":1698112506143},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[1991,9,12]],"date-time":"1991-09-12T00:00:00Z","timestamp":684633600000},"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":[[1992,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Screening for enzyme deficiencies was carried out in cultured skin fibroblasts and leukocytes of 19 patients with lactic acidosis and neurological problems. Pyruvate carboxylase deficiency was demonstrated in three cases. Reduced pyruvate oxidation was found in seven cultures; six showed no significant stimulation of the oxidation rate by methylene blue and in three a decreased pyruvate dehydrogenase complex activity was confirmed. Methylene blue restored a near normal oxidation rate in the seventh culture which had decreased cytochrome<jats:italic>c<\/jats:italic> oxidase activity.<\/jats:p>","DOI":"10.1007\/bf01800009","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:20:51Z","timestamp":1119374451000},"page":"696-706","source":"Crossref","is-referenced-by-count":6,"title":["Investigation of enzyme defects in children with lactic acidosis"],"prefix":"10.1002","volume":"15","author":[{"given":"B.","family":"Merinero","sequence":"first","affiliation":[{"name":"Department of Molecular Biology Universidad Aut\u00f3noma de Madrid  Madrid 28049 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"P\u00e9rez\u2010Cerda","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Universidad Aut\u00f3noma de Madrid  Madrid 28049 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ugarte","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology Universidad Aut\u00f3noma de Madrid  Madrid 28049 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1991,9,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197901000-00009"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799368"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0968-0004(88)90073-4"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(77)90089-1"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441851"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)38504-1"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805804"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199011000-00025"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.3_Part_1.495"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1989.tb15010.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198410000-00017"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198807000-00022"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(67)10061-X"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(67)10055-4"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442325"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(74)90013-1"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_1_19_1","first-page":"57","article-title":"Acidosis l\u00e1ctica neonatal debida a deficiencia aislada de piruvato carboxilasa","volume":"29","author":"Merinero B","year":"1988","journal-title":"An Esp Pediatr"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00769635"},{"key":"e_1_2_1_21_1","first-page":"869","volume-title":"The Metabolic Basis of Inherited Disease","author":"Robinson BH","year":"1989"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4613-0785-3_3"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198008000-00013"},{"key":"e_1_2_1_24_1","first-page":"938","article-title":"Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lactic acidemia","volume":"37","author":"Robinson BH","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1989.tb15009.x"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114641"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00439399"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)91296-2"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1988.tb35349.x"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.32.2.415"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(69)13005-0"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(85)90282-7"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90158-9"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(67)10048-7"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(85)90357-2"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90136-D"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800009","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01800009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T15:32:24Z","timestamp":1694878344000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01800009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,9,12]]},"references-count":35,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1992,9]]}},"alternative-id":["10.1007\/BF01800009"],"URL":"https:\/\/doi.org\/10.1007\/bf01800009","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,9,12]]}}}