脂肪酸氧化障碍的新生儿发病：我们如何将发病率和死亡率降至最低？ - Suppr

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超能文献

Neonatal onset in fatty acid oxidation disorders: how can we minimize morbidity and mortality?

作者信息

Riudor E

机构信息

Laboratori de Metabolopaties, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.

出版信息

J Inherit Metab Dis. 1998 Aug;21(6):619-23. doi: 10.1023/a:1005436414984.

DOI:10.1023/a:1005436414984

PMID:9762596

Abstract

摘要

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Neonatal onset in fatty acid oxidation disorders: how can we minimize morbidity and mortality?脂肪酸氧化障碍的新生儿发病：我们如何将发病率和死亡率降至最低？

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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.

Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels.新生儿中链酰基辅酶A脱氢酶缺乏症伴肌酸激酶水平极高

J Inherit Metab Dis. 1998 Aug;21(6):673-4. doi: 10.1023/a:1005488718618.

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.线粒体极长链酰基辅酶A脱氢酶缺乏症：30例患者的临床特征及诊断要点

Clin Chim Acta. 1998 Jan 12;269(1):43-62. doi: 10.1016/s0009-8981(97)00185-x.

Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system.采用铕标记寡核苷酸和时间分辨荧光免疫分析系统对导致中链酰基辅酶A脱氢酶缺乏症的常见G985突变进行人群筛查。

Clin Chem. 1997 Mar;43(3):436-42.

Specific approaches to fetal cells isolation from maternal blood: introduction.从母体血液中分离胎儿细胞的具体方法：引言

Early Hum Dev. 1996 Dec 30;47 Suppl:S69-72. doi: 10.1016/s0378-3782(96)01825-7.

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.携带G1528C突变的长链3-羟酰基辅酶A脱氢酶缺乏症：13例患者的临床表现

J Pediatr. 1997 Jan;130(1):67-76. doi: 10.1016/s0022-3476(97)70312-3.

J Perinat Med. 1995;23(6):477-85. doi: 10.1515/jpme.1995.23.6.477.

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Biochem Mol Med. 1996 Jun;58(1):59-65. doi: 10.1006/bmme.1996.0033.

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