{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T12:11:27Z","timestamp":1772626287048,"version":"3.50.1"},"reference-count":38,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[1989,3,1]],"date-time":"1989-03-01T00:00:00Z","timestamp":604713600000},"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":[[1989,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these diseases respond well to treatment but may otherwise be fatal, and in order to assure adequate prenatal diagnosis in subsequent pregnancies, a high index of suspicion and rapid diagnosis are necessary in the face of the clinical presentations described. According to three major clinical presentations observed in 218 neonates with inborn errors of intermediary metabolism (neurological distress \u2018intoxication\u2019 type, neurological distress \u2018energy deficiency\u2019 type and hypoglycaemia with liver dysfunction) and according to the proper use of few laboratory investigations, we propose a method of diagnosis which groups these children into five categories. Initial therapy, and sophisticated investigations can be planned on the basis of this grouping.<\/jats:p>","DOI":"10.1007\/bf01799284","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:33:36Z","timestamp":1119375216000},"page":"25-41","source":"Crossref","is-referenced-by-count":38,"title":["Clinical approach to inherited metabolic diseases in the neonatal period: A 20\u2010year survey"],"prefix":"10.1002","volume":"12","author":[{"given":"J. M.","family":"Saudubray","sequence":"first","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Clinique et Unit\u00e9 de Recherches de g\u00e9n\u00e9tique M\u00e9dicale, INSERM U\u201012 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Ogier","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Clinique et Unit\u00e9 de Recherches de g\u00e9n\u00e9tique M\u00e9dicale, INSERM U\u201012 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. P.","family":"Bonnefont","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Clinique et Unit\u00e9 de Recherches de g\u00e9n\u00e9tique M\u00e9dicale, INSERM U\u201012 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Munnich","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Clinique et Unit\u00e9 de Recherches de g\u00e9n\u00e9tique M\u00e9dicale, INSERM U\u201012 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Lombes","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Clinique et Unit\u00e9 de Recherches de g\u00e9n\u00e9tique M\u00e9dicale, INSERM U\u201012 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Herv\u00e9","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Clinique et Unit\u00e9 de Recherches de g\u00e9n\u00e9tique M\u00e9dicale, INSERM U\u201012 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Mitchel","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Clinique et Unit\u00e9 de Recherches de g\u00e9n\u00e9tique M\u00e9dicale, INSERM U\u201012 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Poll Th\u00e9","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Clinique et Unit\u00e9 de Recherches de g\u00e9n\u00e9tique M\u00e9dicale, INSERM U\u201012 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Specola","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Clinique et Unit\u00e9 de Recherches de g\u00e9n\u00e9tique M\u00e9dicale, INSERM U\u201012 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Parvy","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie, P. Kamoun H\u00f4pital des Enfants\u2010Malades 149, rue de S\u00e8vres Paris Cedex 15 75743 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Bardet","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie, P. Kamoun H\u00f4pital des Enfants\u2010Malades 149, rue de S\u00e8vres Paris Cedex 15 75743 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Rabier","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie, P. Kamoun H\u00f4pital des Enfants\u2010Malades 149, rue de S\u00e8vres Paris Cedex 15 75743 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Coud\u00e9","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie, P. Kamoun H\u00f4pital des Enfants\u2010Malades 149, rue de S\u00e8vres Paris Cedex 15 75743 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Charpentier","sequence":"additional","affiliation":[{"name":"Laboratoire de Biochimie, P. Kamoun H\u00f4pital des Enfants\u2010Malades 149, rue de S\u00e8vres Paris Cedex 15 75743 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Fr\u00e9zal","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Clinique et Unit\u00e9 de Recherches de g\u00e9n\u00e9tique M\u00e9dicale, INSERM U\u201012 France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1989,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)33599-4"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112953"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0095-5108(18)31268-5"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197810262991704"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.58.6.415"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110402"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1542\/peds.79.3.359","article-title":"Inborn errors of metabolism: the clinical diagnosis in early infancy","volume":"79","author":"Burton B. K.","year":"1987","journal-title":"Pediatrics"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.61.3.398"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80478-7"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-94-009-5778-7"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.7.463"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01812852"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01811428"},{"key":"e_1_2_1_15_1","first-page":"212","article-title":"congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: Molecular genetic evidence for deletions","volume":"40","author":"Francke U.","year":"1987","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_16_1","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/S0065-3101(24)00307-4","article-title":"Inherited metabolic disease in the newborn: approach to diagnosis and treatment","volume":"33","author":"Goodman S. I.","year":"1986","journal-title":"Adv. Pediatr."},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000469193"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1542\/peds.71.6.960","article-title":"A perimortem protocol for suspected genetic disease","volume":"71","author":"Kronick J. B.","year":"1983","journal-title":"Pediatrics"},{"key":"e_1_2_1_19_1","first-page":"402","volume-title":"The Metabolic Basis of Inherited Disease","author":"Mackenzie W.","year":"1983"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198304143081501"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805576"},{"key":"e_1_2_1_22_1","first-page":"1","article-title":"An approach to the diagnosis of overwhelming metabolic diseases in early infancy","volume":"7","author":"Nyhan W. L.","year":"1977","journal-title":"Curr. Prob. Pediatr."},{"key":"e_1_2_1_23_1","volume-title":"Diagnostic Recognition of Genetic Diseases","author":"Nyhan W. L.","year":"1987"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-71635-5_43"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03047378"},{"key":"e_1_2_1_26_1","first-page":"50","article-title":"The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by3H\u2010biotin incorporation,35S\u2010streptavidin labeling, and Northern blotting with a cloned cDNA probe","volume":"40","author":"Robinson B. H.","year":"1987","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_27_1","first-page":"474","volume-title":"The Metabolic Basis of Inherited Disease","author":"Rosenberg L. A.","year":"1983"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03047365"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1159\/000469194"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799291"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1976.tb04896.x"},{"key":"e_1_2_1_32_1","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S0065-3101(24)00155-5","article-title":"New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency","volume":"34","author":"Stanley C. A.","year":"1987","journal-title":"Adv. Pediatr."},{"key":"e_1_2_1_33_1","first-page":"440","volume-title":"The Metabolic Basis of Inherited Disease","author":"Tanaka K.","year":"1983"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106837"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197711100-00005"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01812855"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01811328"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80351-5"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799652"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799284","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799284","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,27]],"date-time":"2024-01-27T02:44:58Z","timestamp":1706323498000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799284"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,3]]},"references-count":38,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[1989,3]]}},"alternative-id":["10.1007\/BF01799284"],"URL":"https:\/\/doi.org\/10.1007\/bf01799284","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,3]]}}}