Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen

机译：新生儿屏幕错过的阿尔基诺酸琥珀酸裂解酶缺乏

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Rebecca D. Ganetzky; Emma Bedoukian; Matthew A. Deardorff; Can Ficicioglu;
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1. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency [J] . Can Ficicioglu, Sanmati Cuddapah, Leah Dowsett, International Journal of Neonatal Screening . 2017,第2期

机译：遗传测试的实用程序，用于确认长链脂肪酸疾病的异常新生儿筛查：肉碱棕榈酸转移酶1A（CPT1A）缺乏症
2. Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: a New Adjuvant Therapy for Argininosuccinate Lyase Deficiency? [J] . Seminotti Bianca, da Silva Janaina Camacho, Ribeiro Rafael Teixeira, Molecular Neurobiology . 2020,第2期

机译：自由基清除剂可防止胰岛素酸诱导的大鼠脑中的氧化胁迫：Agininosuccinate裂解酶缺乏的新佐剂治疗？
3. Argininosuccinate Lyase Deficiency-Argininosuccinic Aciduria and Beyond [J] . AYELET EREZ, SANDESH C SREENATH NAGAMANI, BRENDAN LEE American journal of medical genetics, Part B. Neuropsychiatric genetics: the official publication of the International Society of Psychiatric Genetics . 2011,第1期

机译：精氨酸琥珀酸裂合酶缺乏症-精氨酸琥珀酸尿症及其他
4. Potential Interferences in the MS/MS Analysis of Acylcarnitines and Amino Acids in Dried Blood Spots Provide Important Clinical Information in Newborn and Metabolic Screening [C] . Donald H. Chace, Victor R. De Jesus, Timothy H. Lim, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2010

机译：在干血斑中的酰基甘油碱和氨基酸的潜在干扰分析和干血斑中的氨基酸在新生儿和代谢筛查中提供重要的临床信息
5. Investigation of the Outcomes of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency [D] . Ferguson, Elisabeth. 2019

机译：新生儿筛查3-甲基巴豆酰辅酶A羧化酶缺乏症的结果
6. Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen [O] . Rebecca D. Ganetzky, Emma Bedoukian, Matthew A. Deardorff, 2017

机译：新生儿筛查遗漏的精氨酸琥珀酸裂合酶缺乏症
7. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency [O] . Leah Dowsett, Lauren Lulis, Can Ficicioglu, 2017

机译：遗传检测对长链脂肪酸疾病中异常新生儿筛查的遗传测试：肉毒氨基棕榈酰转移酶1A（CPT1A）缺乏的错过案例

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen

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