新生児マススクリーニングガイド対象疾患等診療ガイドライン
53/99

25) Fukao T, et al.:Clinical and molecular characterizationof five patients with succinyl■CoA:3■ketoacid CoAtransferase(SCOT)deficiency. Biochim Biophys Acta2011;1812:619■624. 26) Hori T, et al.:Molecular basis of two■exon skipping(exons 12 and 13)by c.1248+5g>a in OXCT1 gene:study on intermediates of OXCT1 transcripts in fibro-blasts. Hum Mutat 2013;34:473■480. 27) Sulaiman RA, et al.:Successful Management of Preg-nancies in Patients with Inherited Disorders of KetoneBody Metabolism. JIMD Rep 2018;38:41■44. 28) Zheng DJ, et al.:A Case of Succinyl■CoA:3■Oxoacid CoA Transferase Deficiency Presenting with Severe Aci-dosis in a 14■Month■Old Female:Evidence for Patho-genicity of a Point Mutation in the OXCT1 Gene. J Pedi-atr Intensive Care 2018;7:62■66. 29) Kim YA, et al.:A Rare Cause of Life■Threatening Keto-acidosis:Novel Compound Heterozygous OXCT1Mutations Causing Succinyl■CoA:3■Ketoacid CoATransferase Deficiency. Yonsei Med J 2019;60:308■311. 30) Fukao T, et al.:Prenatal diagnosis of succinyl■coenzyme A:3■ketoacid coenzyme A transferase deficiency. Pre-natal Diagn 1996;16:471■474. 31) van Hasselt PM, et al.:Monocarboxylate transporter 1deficiency and ketone utilization. N Engl J Med 2014;371:1900■1907. 32) Cahill GF Jr:Fuel metabolism in starvation. Annu RevNutr 2006;26:1■22. 33) Donohue TM Jr.:Alcohol■induced steatosis in livercells. World J Gastroenterol 2007;13:4974■4978. 34) Fukao T:Defects in ketone body metabolism and preg-nancy. Journal of The Korean Society of Inherited Meta-bolic disease 2018;18:69■77.8

元のページ  ../index.html#53

このブックを見る