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Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.英国中链酰基辅酶A脱氢酶缺乏症的前瞻性监测研究。
Arch Dis Child. 1998 Aug;79(2):116-9. doi: 10.1136/adc.79.2.116.
2
Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency.新生儿中链酰基辅酶A脱氢酶缺乏症筛查。
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Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.中链酰基辅酶A脱氢酶缺乏症诊断后的结局
Arch Dis Child. 1999 May;80(5):459-62. doi: 10.1136/adc.80.5.459.
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Screening of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (K329E) in the Czech newborn population.捷克新生儿群体中最常见的中链酰基辅酶A脱氢酶（MCAD）缺乏症突变（K329E）的筛查。
Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:49-50.
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Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.采用电喷雾电离串联质谱法筛查中链酰基辅酶A脱氢酶缺乏症。
Arch Dis Child. 1998 Aug;79(2):109-15. doi: 10.1136/adc.79.2.109.
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Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.宾夕法尼亚州中链酰基辅酶A脱氢酶缺乏症：新生儿筛查显示高发病率和意外的突变频率。
Pediatr Res. 1995 May;37(5):675-8. doi: 10.1203/00006450-199505000-00021.
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Medium-chain acyl-CoA dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症
Am Fam Physician. 1989 May;39(5):221-6.
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Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.对275000名婴儿进行中链酰基辅酶A脱氢酶缺乏症新生儿筛查的评估。
Arch Dis Child Fetal Neonatal Ed. 2001 Sep;85(2):F105-9. doi: 10.1136/fn.85.2.f105.
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Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.在纽约州通过新生儿筛查诊断的 MCAD 缺乏症中缺乏基因型-表型相关性和结果。
Mol Genet Metab. 2010 Mar;99(3):263-8. doi: 10.1016/j.ymgme.2009.10.188. Epub 2009 Nov 1.
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Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population.
Clin Genet. 1991 Oct;40(4):283-6. doi: 10.1111/j.1399-0004.1991.tb03097.x.
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Low expression of fatty acid oxidation related gene ACADM indicates poor prognosis of renal clear cell carcinoma and is related to tumor immune infiltration.脂肪酸氧化相关基因 ACADM 低表达预示肾透明细胞癌不良预后，与肿瘤免疫浸润相关。
Oncol Res. 2024 Feb 6;32(3):545-561. doi: 10.32604/or.2023.030462. eCollection 2024.
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Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency.庚酸和中链支链脂肪酸作为中链酰基辅酶 A 脱氢酶缺乏症的补充治疗。
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Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency.成人癫痫与先天性代谢异常：一位年轻女性患中链酰基辅酶 A 脱氢酶缺乏症的诊断之旅。
Epilepsia Open. 2022 Dec;7(4):810-816. doi: 10.1002/epi4.12630. Epub 2022 Aug 17.
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Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.中链酰基辅酶A脱氢酶缺乏症：回顾性筛查中鉴定出两种新的ACADM突变
J Int Med Res. 2018 Apr;46(4):1339-1348. doi: 10.1177/0300060517734123. Epub 2018 Jan 19.
5
Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.患有中链酰基辅酶A脱氢酶缺乏症的纯母乳喂养新生儿的发病率和死亡率。
Genet Med. 2016 Dec;18(12):1315-1319. doi: 10.1038/gim.2016.49. Epub 2016 May 5.
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Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.中链酰基辅酶A脱氢酶缺乏症与新生儿筛查漏检的ACADM基因新剪接突变相关。
BMC Med Genet. 2015 Jul 30;16:56. doi: 10.1186/s12881-015-0199-5.
7
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.母亲患有未确诊的中链酰基辅酶A脱氢酶缺乏症的健康婴儿的异常新生儿筛查
JIMD Rep. 2015;23:67-70. doi: 10.1007/8904_2015_428. Epub 2015 Mar 13.
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Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.利用加拿大儿科监测项目评估加拿大中链酰基辅酶A脱氢酶缺乏症的发病率：新生儿筛查的作用。
Paediatr Child Health. 2012 Apr;17(4):185-9. doi: 10.1093/pch/17.4.185.
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Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).扩大新生儿中链酰基辅酶A脱氢酶缺乏症筛查的相关性：西班牙加利西亚十年的结果
JIMD Rep. 2011;1:131-6. doi: 10.1007/8904_2011_28. Epub 2011 Jun 25.
10
Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.法国开展中链酰基辅酶 A 脱氢酶缺乏症新生儿普遍筛查的成本效益分析。
BMC Pediatr. 2012 Jun 8;12:60. doi: 10.1186/1471-2431-12-60.
本文引用的文献
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Neonatal screening for inborn errors of metabolism: cost, yield and outcome.新生儿遗传代谢病筛查：成本、收益与结果
Health Technol Assess. 1997;1(7):i-iv, 1-202.
2
New developments in neonatal screening.新生儿筛查的新进展。
Arch Dis Child Fetal Neonatal Ed. 1997 Sep;77(2):F151-4. doi: 10.1136/fn.77.2.f151.
3
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
Pediatr Res. 1997 Feb;41(2):201-9. doi: 10.1203/00006450-199702000-00008.
4
Neonatal presentation of medium-chain acyl-CoA dehydrogenase deficiency in two families.两个家族中新生儿期出现的中链酰基辅酶A脱氢酶缺乏症
J Inherit Metab Dis. 1996;19(3):370-1. doi: 10.1007/BF01799271.
5
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France.在法国，大多数中链酰基辅酶A脱氢酶缺乏症病例未被检测出来。
Hum Genet. 1996 Mar;97(3):367-8. doi: 10.1007/BF02185775.
6
Common MCAD mutation in a healthy parent of two affected siblings.
J Inherit Metab Dis. 1995;18(5):638-9. doi: 10.1007/BF02436011.
7
The A985G mutation in the medium-chain acyl-CoA dehydrogenase gene: high prevalence in the Swiss population resident in Geneva.
J Inherit Metab Dis. 1995;18(5):577-83. doi: 10.1007/BF02436002.
8
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.中链酰基辅酶A脱氢酶缺乏症的新生儿症状。
Arch Dis Child. 1993 Sep;69(3 Spec No):292-4. doi: 10.1136/adc.69.3_spec_no.292.
9
Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS).中链酰基辅酶A脱氢酶（MCAD）基因常见G985突变在苏格兰的发生频率及MCAD缺乏症在婴儿猝死综合征（SIDS）中的作用。
J Inherit Metab Dis. 1993;16(6):991-3. doi: 10.1007/BF00711516.
10
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.中链酰基辅酶A脱氢酶缺乏症：120例患病儿童的临床病程
J Pediatr. 1994 Mar;124(3):409-15. doi: 10.1016/s0022-3476(94)70363-9.
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