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0024353075
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Sudden infant death and Long-chain 3-hydroxyacyl-CoA dehydrogenase
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1. Wanders RJA, Duran M, IJlst L, de Jager JP, van Gennip AH, Jakobs C, Dorland L, van Sprang FJ. Sudden infant death and Long-chain 3-hydroxyacyl-CoA dehydrogenase. Lancet 8653:52-53, 1989.
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Wanders, R.J.A.1
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2
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0025001905
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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid beta-oxidation
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2. Wanders RJA, IJlst L, van Gennip AH, Jakobs C, de Jager JP, Dorland L, van Sprang FJ, Duran M. Long-chain 3-hydroxyacyl-CoA dehydrogenase Deficiency: Identification of a new inborn error of mitochondrial fatty acid beta-oxidation. J Inher Metab Dis 13:311-314, 1990.
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Wanders, R.J.A.1
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Duran, M.8
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3
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0025242644
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Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood
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3. Rocchiccioli F, Wanders RJA, Aubourg P, Vianey-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres P. Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res. 28:657-662, 1990.
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Rocchiccioli, F.1
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4
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0026023968
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3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency associated with sudden neonatal death: Protective effect of medium-chain triglyceride treatment
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4. Duran M, Wanders RJA, de Jager JP, Dorland L, Bruinvis L, Ketting D, IJlst L, van Sprang FJ. 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: Protective effect of medium-chain triglyceride treatment. Eur J Pediatr 150:190-195, 1991.
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Duran, M.1
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0025868680
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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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5. Jackson S, Bartlett K, Land J, Moxon ER, Pollitt RJ, Leonard JV, Turnbull DM. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 29:406-411, 1991.
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Jackson, S.1
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6
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0025828169
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Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency
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6. Dionisi-Vici CD, Burlina AB, Bertini E, Bachmann C, Mazzlotta MRM, Zacchello F, Sabetta G, Hale DE. Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 118:744-746, 1991.
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Dionisi-Vici, C.D.1
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7
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0025886291
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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Different clinical expression in three unrelated patients
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7. Wanders RJA, IJlst L, Duran M, Jakobs C, de Klerk JBC, Przyrembel H, Rocchiccioli F, Aubourg P. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Different clinical expression in three unrelated patients. J Inher Metab Dis 14:325-328, 1991.
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Wanders, R.J.A.1
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De Klerk, J.B.C.5
Przyrembel, H.6
Rocchiccioli, F.7
Aubourg, P.8
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8
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0026565361
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Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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8. Bertini E, Dionisi-Vici C, Caravaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartuli A, Sabetta G, DiDonato S. Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Eur J Pediatr 151:121-126, 1992.
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Bertini, E.1
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Sabatelli, M.5
Rimoldi, M.6
Bartuli, A.7
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DiDonato, S.9
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9
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0026488067
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Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase
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9. Jackson S, Singh Kler R, Bartlett K, Briggs A, Bindoff LA, Pourfarzam M, Gardner-Medwin D, Turnball DM. Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase. J Clin Invest 90:1219-1225, 1992.
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Jackson, S.1
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10
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0026524183
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Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
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10. Ribes A, Riudor E, Navarro C, Boronat M, Marti M, Hale DE. Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis 15:278-279, 1992.
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0027217397
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Long-chain 3-hydroxyacyl-coenzyme a dehydrogenese deficiency - Diagnosis, plasma carnitine fractions and management in a further patient
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11. Moore R, Glasgow JFT, Bingham MA, Dodge JA, Pollitt RJ, Olpin SE, Middleton B, Carpenter K. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenese deficiency - diagnosis, plasma carnitine fractions and management in a further patient. Eur J Pediatr 152:433-436, 1993.
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Moore, R.1
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12
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0026515859
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Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme a hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein
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12. Uchida Y, Izai K, Orii T, Hashimoto T. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein. J Biol Chem 267:1034-1041, 1992.
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Uchida, Y.1
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0028223596
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Structural analysis of cDNA for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein
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13. Kamijo T, Aoyama T, Komiyama A, Hashimoto T. Structural analysis of cDNA for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein. Biochem Biophys Res Commun 199:818-825, 1994.
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Kamijo, T.1
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0028013251
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Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency
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14. Treem WR, Rinaldo P, Hale DE, Stanley CA, Millington DS, Hyams JS, Jackson S, Turnbull DM. Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Hepatology 19:339-345, 1994.
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Treem, W.R.1
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Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency
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15. Wilcken B, Ieung KC, Hammond J, Kamath R, Leonard JV. Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. Lancet 341:407-408, 1993.
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0028597508
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Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein
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16. Ijlst L, Wanders RJA, Ushikubo S, Kamijo T, Hashimoto T. Molecular basis of Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein. Biochim Biophys Acta 1215:347-350, 1994.
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0028888960
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The molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
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17. Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, Gibson B, Shapiro S, Strauss AW. The molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci USA 92:841-845, 1995.
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Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene
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18. Zhang Q-X, Balswin GS. Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene. Biochim Biophysica Acta 1219:567-575, 1994.
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Evidence of intermediate channeling in mitochondrial β-oxidation
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Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
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21. Coates PM, Hale DE, Rinaldo P, Tanaka K. Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet 49:1280-1291, 1991.
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Two a subunit donor splice site mutation cause human trifunctional protein deficiency
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22. Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ. Two a subunit donor splice site mutation cause human trifunctional protein deficiency. J Clin Invest 95:2076-2082, 1995.
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