{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T15:22:12Z","timestamp":1725636132546},"publisher-location":"Dordrecht","reference-count":72,"publisher":"Springer Netherlands","isbn-type":[{"type":"print","value":"9789401089753"},{"type":"electronic","value":"9789400956124"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1984]]},"DOI":"10.1007\/978-94-009-5612-4_2","type":"book-chapter","created":{"date-parts":[[2011,11,21]],"date-time":"2011-11-21T06:19:45Z","timestamp":1321856385000},"page":"2-9","source":"Crossref","is-referenced-by-count":0,"title":["Hudson Memorial Lecture Neonatal Management of Organic Acidurias. Clinical Update"],"prefix":"10.1007","author":[{"given":"J. M.","family":"Saudubray","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Ogier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Charpentier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Depondt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. X.","family":"Coud\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Rey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Rey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Fr\u00e9zal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"2_CR1","doi-asserted-by":"crossref","first-page":"2200","DOI":"10.1016\/S0021-9258(19)45512-9","volume":"247","author":"T Ando","year":"1972","unstructured":"Ando, T., Rasmussen, K., Wright, J. M. and Nyhan, W. L. Isolation and identification of metabolic product of Propionate in patients with propionic acidemia. J. Biol. Chem. 247 (1972a) 2200\u20132204.","journal-title":"J. Biol. Chem."},{"key":"2_CR2","doi-asserted-by":"publisher","first-page":"2807","DOI":"10.1073\/pnas.69.10.2807","volume":"69","author":"T Ando","year":"1972","unstructured":"Ando, T., Rasmussen, K., Nyhan, W. L. and Hull, D. Hydroxypropionate: significance of \u00df oxidation of propionate in patients with propionic acidemia and methyl-malonic acidemia. Proc. Natl. Acad. Sci. USA 69 (1972b) 2807\u20132811.","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2_CR3","first-page":"605","volume":"24","author":"J Astruc","year":"1977","unstructured":"Astruc, J., Froye, E., Luciani, J. M., Bellet, H., Magnan de Bornier, P. and Brunei, D. Leucinose n\u00e9o-natale d\u2019\u00e9volution favorable: problemes \u00e9volutifs et th\u00e9rapeutiques. Ann. Pediatr. 24 (1977) 605\u2013610.","journal-title":"Ann. Pediatr."},{"key":"2_CR4","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/0006-2944(74)90004-0","volume":"10","author":"K Bartlett","year":"1974","unstructured":"Bartlett, K. and Gompertz, K. The specificity of glycine-N-acylase and acylglycine excretion in the organic acidaemias. Biochem. Med. 10 (1974) 15\u201323.","journal-title":"Biochem. Med."},{"key":"2_CR5","volume-title":"Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis","author":"HJ Bremer","year":"1981","unstructured":"Bremer, H. J., Duran, M., Kamerling, J. P., Przyrembel, H. and Wadman, S. Disturbances of Amino Acid Metabolism: Clinical Chemistry and Diagnosis. Urban and Schwarzenberg, Baltimore, Munich, 1981."},{"key":"2_CR6","first-page":"543","volume":"31","author":"M Broyer","year":"1974","unstructured":"Broyer, M., Guesry, P., Burgess, E. A., Charpentier, C. and Lemonnier, A. Acidemie methylmalonique avec nephropathie hyperuric\u00e9mique. Arch. Fr. P\u00e9diatr. 31 (1974) 543\u2013555.","journal-title":"Arch. Fr. P\u00e9diatr."},{"key":"2_CR7","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/S0022-3476(81)80478-7","volume":"99","author":"L Cathelineau","year":"1981","unstructured":"Cathelineau, L., Briand, P., Ogier, EL., Charpentier, C., Coud\u00e9, F. X. and Saudubray, J. M. Occurrence of hyperammonemia in the course of 17 cases of methylmalonic acidemia. J. Pediatr. 99 (1981) 279\u2013280.","journal-title":"J. Pediatr."},{"key":"2_CR8","doi-asserted-by":"crossref","unstructured":"Chalmers, R. A. and Lawson, A. M. L. Organic Acids in Man. Chapman&Hall, London, New York, 1982.","DOI":"10.1007\/978-94-009-5778-7"},{"key":"2_CR9","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1542\/peds.27.4.522","volume":"27","author":"B Childs","year":"1961","unstructured":"Childs, B., Nyhan, W. L., Borden, M., Bard, L. and Coore, R. Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino-acid metabolism. 1. Pediatrics 27 (1961) 522\u2013537.","journal-title":"Pediatrics"},{"key":"2_CR10","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1542\/peds.68.6.856","volume":"68","author":"C Clow","year":"1981","unstructured":"Clow, C., Reade, T. and Scriver, C. Outcome of early and longterm management of classical maple syrup urine disease. Pediatrics 68 (1981) 856\u2013862.","journal-title":"Pediatrics"},{"key":"2_CR11","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1056\/NEJM197811022991807","volume":"299","author":"R Cohn","year":"1978","unstructured":"Cohn, R., Yudkoff, M., Rothman, R. and Segal, S. Isovaleric acidemia: use of glycine therapy in neonates. N. Engl. J. Med. 299 (1978) 996\u2013999.","journal-title":"N. Engl. J. Med."},{"key":"2_CR12","first-page":"1005","volume":"115","author":"Committee for Improvement of Hereditary Disease Management.","year":"1976","unstructured":"Committee for Improvement of Hereditary Disease Management. Management of maple syrup urine disease in Canada. CMA Journal 115 (1976) 1005\u20131111.","journal-title":"CMA Journal"},{"key":"2_CR13","first-page":"283","volume":"26","author":"J Costil","year":"1979","unstructured":"Costil, J., Debard, A., Guilhaume, A., Charpentier, C., Pousset, J. L. and Brissaud, H. E. Acid\u00e9mie propionique: \u00e0 propos de deux observations. Ann. P\u00e9diatr. 26 (1979) 283\u2013288.","journal-title":"Ann. P\u00e9diatr."},{"key":"2_CR14","first-page":"1273","volume":"122","author":"J Costil","year":"1971","unstructured":"Costil, J., Aymard, P., Repesse, G., Richardet, J. M. and Brissaud, H. E. Leucinose aigu\u00eb, d\u00e9veloppement psychomoteur normal \u00e0 un an. Ann. Med. Interne. 122 (1971) 1273\u20131278.","journal-title":"Ann. Med. Interne."},{"key":"2_CR15","unstructured":"Coud\u00e9, F. X., Ogier, H., Carrier, H., Berthillier, G., Charpentier, C., Pham Dinh, D., Aicardi, J. and Saudubray, J. M. Myopathy in methylmalonic acidemia: a new secondary carnitine deficiency syndrome (abstract). Fifth international congress on neuromuscular diseases. Marseille, 12\u201313 September 1982a."},{"key":"2_CR16","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1542\/peds.69.1.115","volume":"69","author":"FX Coud\u00e9","year":"1982","unstructured":"Coud\u00e9, F. X., Ogier, H., Grimber, G., Parvy, Ph., Pham Dinh, D., Charpentier, C. and Saudubray, J. M. Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia. Pediatrics 69 (1982b) 115\u2013117.","journal-title":"Pediatrics"},{"key":"2_CR17","doi-asserted-by":"publisher","first-page":"1544","DOI":"10.1172\/JCI109614","volume":"64","author":"FX Coude","year":"1979","unstructured":"Coude, F. X., Sweetman, L. and Nyhan, W. L. Inhibition by propionyl coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria: a possible explanation for hyperammonemia in propionic and methylmalonic acidemia. J. Clin. Invest. 64 (1979) 1544\u20131548.","journal-title":"J. Clin. Invest."},{"key":"2_CR18","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1542\/peds.25.1.72","volume":"25","author":"J Dancis","year":"1960","unstructured":"Dancis, J., Levitz, M. and Westall, R. Maple syrup urine disease: branched-chain ketoaciduria. Pediatrics 25 (1960) 72\u201379.","journal-title":"Pediatrics"},{"key":"2_CR19","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF01800005","volume":"5","author":"JA Delvalle","year":"1982","unstructured":"Delvalle, J. A., Merinero, B., Jimenez, A., Garcia, M. J. and Ugarte, M. Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency. J. Inher. Metab. Dis. 5 (1982) 121\u2013124.","journal-title":"J. Inher. Metab. Dis."},{"key":"2_CR20","volume-title":"Les Anomalies H\u00e9r\u00e9ditaires du M\u00e9tabolisme des Acides Amin\u00e9s \u00e0 Chaine Ramifi\u00e9e","author":"JP Farriaux","year":"1980","unstructured":"Farriaux, J. P. Les Anomalies H\u00e9r\u00e9ditaires du M\u00e9tabolisme des Acides Amin\u00e9s \u00e0 Chaine Ramifi\u00e9e. Doin, Paris, 1980."},{"key":"2_CR21","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0022-3476(82)80226-6","volume":"100","author":"R Fine","year":"1982","unstructured":"Fine, R. Peritoneal dialysis update. J. Pediatr. 100 (1982) 1\u20137.","journal-title":"J. Pediatr."},{"key":"2_CR22","first-page":"1226","volume":"22","author":"J Fr\u00e9zal","year":"1965","unstructured":"Fr\u00e9zal, J., Gabilan, J. C., Rey, J., Vis, H., Roy, C., Olivennes, M. and Lamy, M. Deux observations de leucinoses. Arch. Fr. P\u00e9diatr. 22 (1965) 1226\u20131227.","journal-title":"Arch. Fr. P\u00e9diatr."},{"key":"2_CR23","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1016\/0006-2944(69)90005-2","volume":"3","author":"G Gaull","year":"1969","unstructured":"Gaull, G. Pathogenesis of maple-syrup urine disease: observations during dietary management and treatment of coma by peritoneal dialysis. Biochem. Med. 3 (1969) 130\u2013149.","journal-title":"Biochem. Med."},{"key":"2_CR24","first-page":"131","volume":"30","author":"J Ghisolfi","year":"1973","unstructured":"Ghisolfi, J., Augier, D., Dalous, A. and Regnier, C. Les clearances r\u00e9nales endog\u00e8nes des acides amin\u00e9s. Arch. Fr. P\u00e9diatr. 30 (1973) 131\u2013143.","journal-title":"Arch. Fr. P\u00e9diatr."},{"key":"2_CR25","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1007\/BF00442159","volume":"129","author":"G Hammersen","year":"1978","unstructured":"Hammersen, G., Wille, L., Schmidt, H., Lutz, P. and Bickel, H. Maple syrup urine disease: treatment of the acutely ill newborn. Eur. J. Pediatr. 129 (1978) 157\u2013165.","journal-title":"Eur. J. Pediatr."},{"key":"2_CR26","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1016\/S0140-6736(71)92760-7","volume":"2","author":"RJ Harris","year":"1971","unstructured":"Harris, R. J. Infection in maple syrup urine disease. Lancet 2 (1971) 813\u2013814.","journal-title":"Lancet"},{"key":"2_CR27","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1203\/00006450-196811000-00010","volume":"2","author":"FA Hommes","year":"1968","unstructured":"Hommes, F. A., Kuipers, J. R. G., Elema, J. D., Jansen, J. F. and Jonxis, J. H. Propionicacidemia, a new inborn error of metabolism. Pediatr. Res. 2 (1968) 519\u2013524.","journal-title":"Pediatr. Res."},{"key":"2_CR28","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1203\/00006450-197601000-00005","volume":"10","author":"I Krieger","year":"1976","unstructured":"Krieger, I. and Tanaka, K. Therapeutic effects of glycine in isovaleric acidemia. Pediatr. Res. 10 (1976) 25\u201329.","journal-title":"Pediatr. Res."},{"key":"2_CR29","first-page":"176","volume":"17","author":"U Langenbeck","year":"1979","unstructured":"Langenbeck, U., Wendel, U. and Luthe, H. Renal clearance of branched-chain 2-oxo-acids in maple syrup urine disease. J. Clin. Chem. Clin. Biochem. 17 (1979) 176\u2013177.","journal-title":"J. Clin. Chem. Clin. Biochem."},{"key":"2_CR30","unstructured":"Leonard, J., Umpleby, A. M., Naughten, E. M., Boroujerdi, M. A. and Sonksen, P. H. Leucine turnover in maple syrup urine disease (abstract). 20th annual symposium of SSIEM, Manchester, 8-10 September 1982."},{"key":"2_CR31","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1542\/peds.52.1.83","volume":"52","author":"H Levy","year":"1973","unstructured":"Levy, H., Erickson, A., Lott, I. and Kurtz, D. Isovaleric acidemia: results of family study and dietary treatment. Pediatrics 52 (1973) 83\u201394.","journal-title":"Pediatrics"},{"key":"2_CR32","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1056\/NEJM198304143081501","volume":"308","author":"S Matsui","year":"1983","unstructured":"Matsui, S., Mahoney, J. and Rosenberg, L. The natural history of the inherited methylmalonic acidemias. N. Engl. J. Med. 308 (1983) 857\u2013861.","journal-title":"N. Engl. J. Med."},{"key":"2_CR33","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1542\/peds.23.2.348","volume":"23","author":"JH Menkes","year":"1959","unstructured":"Menkes, J. H. Maple syrup urine disease: isolation and identification of organic acids in urine. Pediatrics 23 (1959) 348\u2013353.","journal-title":"Pediatrics"},{"key":"2_CR34","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1542\/peds.14.5.462","volume":"14","author":"JH Menkes","year":"1954","unstructured":"Menkes, J. H., Hurst, P. L. and Craig, J. M. New syndrome: progressive familial infantile cerebral dysfunction associated with unusual urinary substance. Pediatrics 14 (1954) 462\u2013470.","journal-title":"Pediatrics"},{"key":"2_CR35","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1542\/peds.70.6.949","volume":"70","author":"J Mickell","year":"1982","unstructured":"Mickell, J. Urea nitrogen excretion in critically ill children. Pediatrics 70 (1982) 949\u2013955.","journal-title":"Pediatrics"},{"key":"2_CR36","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1136\/adc.57.12.918","volume":"57","author":"ER Naughten","year":"1982","unstructured":"Naughten, E. R., Jenkins, J., Francis, D. and Leonard, J. Outcome of maple syrup urine disease. Arch. Dis. Child. 57 (1982) 918\u2013921.","journal-title":"Arch. Dis. Child."},{"key":"2_CR37","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1136\/adc.42.225.492","volume":"42","author":"VG Oberholzer","year":"1967","unstructured":"Oberholzer, V. G., Levin, B., Burgess, E. and Young, W. Methylmalonic aciduria: an inborn error of metabolism leading to chronic metabolic acidosis. Arch. Dis. Child. 42 (1967) 492\u2013504.","journal-title":"Arch. Dis. Child."},{"key":"2_CR38","first-page":"133","volume":"26","author":"F Rey","year":"1969","unstructured":"Rey, F., Rey, J., Cloup, M., Feron, J. F., Dore, F., Labrune, B. and Fr\u00e9zal, J. Traitement d\u2019urgence d\u2019une forme aig\u00fce de leucinose par dialyse p\u00e9riton\u00e9ale. Arch. Fr. P\u00e9diatr. 26 (1969) 133\u2013137.","journal-title":"Arch. Fr. P\u00e9diatr."},{"key":"2_CR39","doi-asserted-by":"publisher","first-page":"962","DOI":"10.1136\/adc.54.12.962","volume":"54","author":"MF Robert","year":"1972","unstructured":"Robert, M. F., Schultz, D. J., Wolf, B., Cochran, W. D. and Schwartz, A. L. Treatment of a neonate with propionic acidaemia and severe hyperammonemia by peritoneal dialysis. Arch. Dis. Child. 54 (1972) 962\u2013965.","journal-title":"Arch. Dis. Child."},{"key":"2_CR40","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.1016\/S0140-6736(82)92524-7","volume":"1","author":"CR Roe","year":"1982","unstructured":"Roe, C. R. and Bohan, T. P. Carnitine therapy in propionic acidaemia. Lancet 1 (1982) 1411\u20131412.","journal-title":"Lancet"},{"key":"2_CR41","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1542\/peds.53.2.281","volume":"53","author":"G Russell","year":"1974","unstructured":"Russell, G., Thom, H., Tarlow, M. J. and Gompertz, D. Reduction of plasma Propionate by peritoneal dialysis. Pediatrics 53 (1974) 281\u2013283.","journal-title":"Pediatrics"},{"key":"2_CR42","doi-asserted-by":"publisher","first-page":"1423","DOI":"10.1016\/S0140-6736(69)90961-1","volume":"2","author":"SE Sallan","year":"1969","unstructured":"Sallan, S. E. and Cottom, D. Peritoneal dialysis in maple syrup urine disease. Lancet 2 (1969) 1423\u20131424.","journal-title":"Lancet"},{"key":"2_CR43","first-page":"1279","volume":"122","author":"JM Saudubray","year":"1971","unstructured":"Saudubray, J. M., Fournet, J. P. and Cloup, M. Int\u00e9r\u00eat de 1a dialyse p\u00e9riton\u00e9ale dans 1e traitement d\u2019urgence des maladies m\u00e9taboliques d\u2019origine constitutionnelle r\u00e9v\u00e9l\u00e9es dans 1a p\u00e9riode n\u00e9o-natale. Ann. Med. Intern. 122 (1971) 1279\u20131283.","journal-title":"Ann. Med. Intern."},{"key":"2_CR44","first-page":"795","volume":"33","author":"JM Saudubray","year":"1976","unstructured":"Saudubray, J. M., Sorin, M., Depondt, E., Herouin, C., Charpentier, C. and Pousset, J. L. Acid\u00e9mie isoval\u00e9rique: \u00e9tude et traitement chez trois fr\u00e8res. Arch. Fr. P\u00e9diatr. 33 (1976) 795\u2013808.","journal-title":"Arch. Fr. P\u00e9diatr."},{"key":"2_CR45","first-page":"611","volume":"14","author":"JM Saudubray","year":"1978","unstructured":"Saudubray, J. M., Charpentier, C. and Coud\u00e9, F. X. Urgences neonatales en rapport avec une maladie, h\u00e9r\u00e9ditaire du metabolisme des acides amines et des hydrates de carbone. Rev. P\u00e9diatr. 14 (1978) 611\u2013621.","journal-title":"Rev. P\u00e9diatr."},{"key":"2_CR46","first-page":"969","volume":"36","author":"JM Saudubray","year":"1979","unstructured":"Saudubray, J. M., Am\u00e9d\u00e9e Manesme, O., Lavaud, J., Mselati, J. C., Besson Leaud, M., Ogier, H., Checouri, A., Leraillez, J., Ferre, P., Coud\u00e9, F. X. and Charpentier, C. Traitement d\u2019urgence des amino-acidopathies \u00e0 r\u00e9v\u00e9lation n\u00e9onatale. Arch. Fr. P\u00e9diatr. 36 (1979) 969\u2013980.","journal-title":"Arch. Fr. P\u00e9diatr."},{"key":"2_CR47","first-page":"IX","volume":"37","author":"JM Saudubray","year":"1980","unstructured":"Saudubray, J. M., Charpentier, C., Coud\u00e9, F. X., Ogier, H., Pham Dinh, D., Bartlett, K. and Gompertz, D. Pronostic des aciduries m\u00e9thylmaloniques h\u00e9r\u00e9ditates. Corr\u00e9lation entre 1a tol\u00e9rance prot\u00e9ique, la sensibilite\u00e9 \u00e0 1a vitarnme B12 et 1e deficit enzymatique. Arch. Fr. P\u00e9diatr. 37 (1980) IX\u2013XIV.","journal-title":"Arch. Fr. P\u00e9diatr"},{"key":"2_CR48","first-page":"589","volume-title":"Human Genetics. Part B: Medical Aspects","author":"JM Saudubray","year":"1982","unstructured":"Saudubray, J. M., Ogier, H., Charpentier, C., Am\u00e9d\u00e9e Manesme, O., Coud\u00e9, F. X. and Fr\u00e9zal, J. Acute and longterm management of infants with amino-acidopathies and organic acidurias. In Bonne-Tamir, B. (ed.) Human Genetics. Part B: Medical Aspects, Liss, New York (1982a), pp. 589\u2013596."},{"key":"2_CR49","first-page":"735","volume":"39","author":"JM Saudubray","year":"1982","unstructured":"Saudubray, J. M., Am\u00e9d\u00e9e Manesme, O., Munnich, A., Ogier, H., Depondt, E., Charpentier, C., Coud\u00e9, F. X., Rey, F. and Fr\u00e9zal, J. H\u00e9t\u00e9rog\u00e9n\u00e9it\u00e9 de 1a leucinose. Corr\u00e9lations entre l\u2019aspect clinique, 1a tol\u00e9rance prot\u00e9ique et 1e d\u00e9ficit enzymatique. Arch. Fr. P\u00e9diatr. 39 (1982b) 735\u2013740.","journal-title":"Arch. Fr. P\u00e9diatr"},{"key":"2_CR50","first-page":"382","volume-title":"Neonatal Screening","author":"JM Saudubray","year":"1983","unstructured":"Saudubray, J. M., Ogier, H., Charpentier, C., Coud\u00e9, F. X., Munnich, A., Cathelineau, L. and Fr\u00e9zal, J. A programmed screening for hyperammonemias: strategy and results. In Naruse, H. and Irie, M. (eds.) Neonatal Screening, Excerpta Medica, Amsterdam, Oxford, Princeton, 1983, pp. 382\u2013387."},{"key":"2_CR51","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1016\/S0022-3476(83)80027-4","volume":"102","author":"E Schmidt-Sommerfeld","year":"1983","unstructured":"Schmidt-Sommerfeld, E., Penn, D. and Wolf, H. Carnitine deficiency in premature infants receiving total parenteral nutrition: effect of L-carnitine supplementation. J. Pediatr. 102 (1983) 931\u2013935.","journal-title":"J. Pediatr."},{"key":"2_CR52","first-page":"449","volume":"27","author":"L Schuchmann","year":"1972","unstructured":"Schuchmann, L., Witt, I., Schulz, P., Schumacher, H. and Rudiger, H. Multiple exchange transfusions as treatment during the acute period in maple syrup urine disease, Helv. Paediatr. Acta 27 (1972) 449\u2013456.","journal-title":"Helv. Paediatr. Acta"},{"key":"2_CR53","volume-title":"Amino-acid Metabolism and its Disorders","author":"CR Scriver","year":"1973","unstructured":"Scriver, C. R. and Rosenberg, L. E. Methods of amino-acid analysis and diagnosis of amino-acidopathies. In Amino-acid Metabolism and its Disorders, Saunders, Philadelphia, 1973."},{"key":"2_CR54","first-page":"68","volume":"113","author":"SE Snyderman","year":"1967","unstructured":"Snyderman, S. E. The therapy of maple syrup urine disease. Pediatrics 113 (1967) 68\u201373.","journal-title":"Pediatrics"},{"key":"2_CR55","first-page":"17","volume-title":"Heritable Disorders of Amino-acid Metabolism","author":"SE Snyderman","year":"1974","unstructured":"Snyderman, S. E. Maple syrup urine disease. In Nyhan, W. L. (ed.) Heritable Disorders of Amino-acid Metabolism, Wiley, New York, 1974, pp. 17\u201331."},{"key":"2_CR56","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1542\/peds.34.4.454","volume":"34","author":"SE Snyderman","year":"1964","unstructured":"Snyderman, S. E., Norton, P. M., Roitman, E. and Holt, L. E. Jr. Maple syrup urine disease, with particular reference to dietotherapy. Pediatrics 34 (1964) 454\u2013472.","journal-title":"Pediatrics"},{"key":"2_CR57","doi-asserted-by":"publisher","first-page":"313","DOI":"10.3109\/00365516709076961","volume":"20","author":"O Stokke","year":"1967","unstructured":"Stokke, O., Eldjarn, L., Norum, K. R., Steen Johnsen, J. and Halvorsen, S. Methylmalonic acidemia: a new inborn error of metabolism which may cause fatal acidosis in the neonatal period. Scand. J. Clin. Lab. Invest. 20 (1967) 313\u2013328.","journal-title":"Scand. J. Clin. Lab. Invest."},{"key":"2_CR58","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1002\/bms.1200050307","volume":"5","author":"L Sweetman","year":"1978","unstructured":"Sweetman, L., Weyler, W. and Nyhan, W. L. Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency. Biomed. Mass Spectrom. 5 (1978) 198\u2013207.","journal-title":"Biomed. Mass Spectrom."},{"key":"2_CR59","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1073\/pnas.56.1.236","volume":"56","author":"K Tanaka","year":"1966","unstructured":"Tanaka, K., Budd, M. A., Efron, M. L. and Isselbacher, K. J. Isovaleric acidemia: a new genetic defect of leucine metabolism. Proc. Natl. Acad. Sci. USA 56 (1966) 236\u2013242.","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2_CR60","doi-asserted-by":"crossref","first-page":"2966","DOI":"10.1016\/S0021-9258(18)99599-2","volume":"353","author":"K Tanaka","year":"1967","unstructured":"Tanaka, K. and Isselbacher, K. J. The isolation and identification of N-isovaleryl glycine from urines of patients with isovaleric acidemia. J. Biol. Chem. 353 (1967) 2966\u20132972.","journal-title":"J. Biol. Chem."},{"key":"2_CR61","first-page":"440","volume-title":"The Metabolic Basis of Inherited Diseases","author":"K Tanaka","year":"1983","unstructured":"Tanaka, K. and Rosenberg, L. E. Disorder of branched-chain amino-acid and organic-acid metabolism. In Stanbury, J. B., Wyngaarden, J. B., Frederickson, D. S., Goldstein, J. L. and Brown, M. S. (eds.) The Metabolic Basis of Inherited Diseases, McGraw Hill, New York, 1983, pp. 440\u2013473."},{"key":"2_CR62","doi-asserted-by":"publisher","first-page":"707","DOI":"10.1016\/S0022-3476(75)80354-4","volume":"86","author":"WB Wadlington","year":"1975","unstructured":"Wadlington, W. B., Kilroy, A., Ando, T., Sweetman, L. and Nyhan, W. L. Hyperglycinemia and propionyl CoA carboxylase deficiency and episodic severe illness without consistent ketosis. J. Pediatr. 86 (1975) 707\u2013712.","journal-title":"J. Pediatr."},{"key":"2_CR63","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/BF02263648","volume":"4","author":"M Walser","year":"1981","unstructured":"Walser, M. and Stewart, P. M. Organic acidaemia and hyperammonaemia: review. J. Inher. Metab. Dis. 4 (1981) 177\u2013182.","journal-title":"J. Inher. Metab. Dis."},{"key":"2_CR64","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1007\/BF00442404","volume":"134","author":"U Wendel","year":"1980","unstructured":"Wendel, U., Becker, K., Przyrembel, H., Bulla, M., Manegold, C., Mench-Hoinowxki, A. and Langenbeck, U. Peritoneal dialysis in maple syrup urine disease: studies on branched-chain amino and keto-acids. Eur. J. Pediatr. 134 (1980) 57\u201363.","journal-title":"Eur. J. Pediatr."},{"key":"2_CR65","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1007\/BF01377350","volume":"139","author":"U Wendel","year":"1982","unstructured":"Wendel, U., Langenbeck, U., Lombeck, I. and Bremer, H. J. Maple syrup urine disease. Thereapeutic use of insulin in catabolic states. Eur. J. Pediatr. 139 (1982a) 172\u2013175.","journal-title":"Eur. J. Pediatr"},{"key":"2_CR66","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1007\/BF00442499","volume":"138","author":"U Wendel","year":"1982","unstructured":"Wendel, U., Langenbeck, U., Lombeck, I. and Bremer, H. J. Exchange transfusion in acute episodes of maple syrup urine disease. Eur. J. Pediatr. 138 (1982b) 293\u2013296.","journal-title":"Eur. J. Pediatr"},{"key":"2_CR67","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1136\/adc.38.201.485","volume":"38","author":"RG Westall","year":"1963","unstructured":"Westall, R. G. Dietary treatment of a child with maple syrup urine disease (branched-chain keto-aciduria). Arch. Dis. Child. 38 (1963) 485\u2013491.","journal-title":"Arch. Dis. Child."},{"key":"2_CR68","first-page":"1230","volume":"19","author":"DT Whelan","year":"1979","unstructured":"Whelan, D. T., Ryan, E., Spate, M., Morris, M., Hurley, R. M. and Hill, R. Methylmalonic acidemia: 6 years\u2019 clinical experience with two variants unresponsive to vitamin B12 therapy. CMA Journal 19 (1979) 1230\u20131234.","journal-title":"CMA Journal"},{"key":"2_CR69","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1542\/peds.61.6.902","volume":"61","author":"PA Winokur","year":"1978","unstructured":"Winokur, P. A., Vashista, K. and Seshamawi, R. Isovaleric acidemia: a case report. Pediatrics 61 (1978) 902\u2013907.","journal-title":"Pediatrics"},{"key":"2_CR70","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1016\/S0022-3476(78)81167-6","volume":"93","author":"B Wolf","year":"1978","unstructured":"Wolf, B., Hsia, D. Y., Tanaka, K. and Rosenberg, L. E. Correlation between serum propiohate and blood ammonia concentrations in propionic acidemia. J. Pediatr. 93 (1978) 471\u2013473.","journal-title":"J. Pediatr."},{"key":"2_CR71","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1016\/S0022-3476(81)80004-2","volume":"99","author":"B Wolf","year":"1981","unstructured":"Wolf, B., Hsia, E., Sweetman, L., Gravel, R., Harris, D. J. and Nyhan, W. L. Propionic acidemia: a clinical update. J. Pediatr. 99 (1981) 835\u2013846.","journal-title":"J. Pediatr."},{"key":"2_CR72","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1016\/S0022-3476(78)80164-4","volume":"92","author":"M Yudkoff","year":"1978","unstructured":"Yudkoff, M., Cohn, R. M., Puschak, R., Rothman, R. and Segal, S. Glycine therapy in isovaleric acidemia. J. Pediatr. 92 (1978) 813\u2013817.","journal-title":"J. Pediatr."}],"container-title":["Organic Acidurias"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-94-009-5612-4_2.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,17]],"date-time":"2021-12-17T08:57:29Z","timestamp":1639731449000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-94-009-5612-4_2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984]]},"ISBN":["9789401089753","9789400956124"],"references-count":72,"URL":"https:\/\/doi.org\/10.1007\/978-94-009-5612-4_2","relation":{},"subject":[],"published":{"date-parts":[[1984]]}}}