{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T14:39:58Z","timestamp":1770820798958,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2003,9,18]],"date-time":"2003-09-18T00:00:00Z","timestamp":1063843200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2003,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common autosomal recessive inherited disease of the mitochondrial long\u2010chain fatty acid (LCFA) \u03b2\u2010oxidation, may result in three distinct clinical phenotypes, namely, a mild adult muscular form, a severe infantile hepatocardiomuscular disease, and a neonatal form, which includes dysmorphic features in addition to hepatocardiomuscular symptoms. Both the latter forms are life\u2010threatening diseases, and prenatal diagnosis (PND) can be offered to couples at a one\u2010fourth risk of having an affected child. PND of CPT2 deficiency hitherto relied mostly on mutation detection from fresh chorionic villi (10 weeks' gestation), since CPT2 activity could be assayed on cultured amniocytes only (16\u201317 weeks' gestation).<\/jats:p><jats:p>We devised a CPT2 activity assay from 10 mg of chorionic villi sampling (CVS). Combining this enzymatic assay to haplotype study using polymorphic markers linked to the <jats:italic>CPT2<\/jats:italic> gene, we were able to carry out within 2 days, CPT2 deficiency PND, in two unrelated families, using a CVS performed at the 11th week of gestation. Copyright \u00a9 2003 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.713","type":"journal-article","created":{"date-parts":[[2003,11,20]],"date-time":"2003-11-20T18:17:22Z","timestamp":1069352242000},"page":"884-887","source":"Crossref","is-referenced-by-count":11,"title":["Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach"],"prefix":"10.1002","volume":"23","author":[{"given":"Bernadette Chadefaux","family":"Vekemans","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Paul","family":"Bonnefont","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jo\u00eblle","family":"Aupetit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghislaine","family":"Royer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronique","family":"Droin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Atti\u00e9\u2010Bitach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Marie","family":"Saudubray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laure","family":"Thuillier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,9,18]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.57.070188.001401"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2938"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.6.1984"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198809000-00006"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199005000-00016"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115090"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4115.929"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/380152a0"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1457"},{"key":"e_1_2_1_11_1","first-page":"301","volume-title":"New Development in Fatty Acid Oxidation","author":"Gellera C","year":"1992"},{"key":"e_1_2_1_12_1","first-page":"542","article-title":"A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome","volume":"56","author":"Gilbert\u2010Dussardier B","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199112263252607"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.49.070180.002143"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.2.378"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70073-0"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6845"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-37952"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380300001"},{"key":"e_1_2_1_20_1","first-page":"435","article-title":"Lethal carnitine palmitoyltransferase (CPT) deficiency in newborns: a molecular genetic study (Abstr.)","volume":"55","author":"Taroni F","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10201"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.1.19"},{"issue":"4","key":"e_1_2_1_23_1","first-page":"109","article-title":"Carnitine palmitoyltransferase 2 deficiency. 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