RIBOFLAVIN TRANSPORTER DEFICIENCY: A RARE, TREATABLE DISORDER THAT HAS POTENTIAL TO BE DETECTED ON THE NEWBORN SCREEN

Feitosa Daniela; Fox Charlene; Weiss-Burns Jody; Galvin-Parton Patricia

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RIBOFLAVIN TRANSPORTER DEFICIENCY: A RARE, TREATABLE DISORDER THAT HAS POTENTIAL TO BE DETECTED ON THE NEWBORN SCREEN

机译：核黄素转运蛋白缺乏：一种罕见的，可治疗的病症，其在新生儿筛选中具有潜力

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来源
《Molecular genetics and metabolism》 |2018年第3期|共2页
作者
Feitosa Daniela; Fox Charlene; Weiss-Burns Jody; Galvin-Parton Patricia;
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作者单位

SUNY Stony Brook Sch Med Dept Pediat Stony Brook NY 11794 USA;

SUNY Stony Brook Sch Med Dept Pediat Stony Brook NY 11794 USA;

SUNY Stony Brook Sch Med Stony Brook Childrens Hosp Div Pediat Genet Stony Brook NY 11794 USA;

SUNY Stony Brook Sch Med Dept Pediat Stony Brook NY 11794 USA;

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原文格式 PDF
正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. RIBOFLAVIN TRANSPORTER DEFICIENCY: A RARE, TREATABLE DISORDER THAT HAS POTENTIAL TO BE DETECTED ON THE NEWBORN SCREEN [J] . Feitosa Daniela, Fox Charlene, Weiss-Burns Jody, Molecular genetics and metabolism . 2018,第3期

机译：核黄素转运蛋白缺乏：一种罕见的，可治疗的病症，其在新生儿筛选中具有潜力
2. High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel [J] . Gwendolyn Gramer1, Junmin Fang-Hoffmann1, Patrik Feyh1, 世界儿科杂志(英文版) . 2018,第005期

机译：新生儿筛查发现孕妇维生素B12缺乏症的高发：德国新生儿筛查小组评估26种其他目标疾病的研究的第一项结果
3. High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel [J] . Gwendolyn Gramer, Junmin Fang-Hoffmann, Patrik Feyh, 世界儿科杂志（英文版） . 2018,第005期

机译：新生儿筛查发现孕妇维生素B12缺乏症的高发：德国新生儿筛查小组评估26种其他目标疾病的研究的第一项结果
4. New approaches to multiplex newborn screening of lysosomal storage disorders by tandem mass spectrometry [C] . Frantisek Turecek, Mariana Barcenas, C. Ronald Scott, International Mass Spectrometry Conference . 2014

机译：用串联质谱法多用新生儿筛查溶酶体储存障碍的新方法
5. Implementation of the AAP Hyperbilirubinemia Guidelines in a Newborn Nursery to Appropriately Screen and Treat Newborns for Hyperbilirubinemia [D] . Flynn, Mary Elizabeth 2013

机译：在新生儿苗圃中实施AAP高胆红素血症指南，以适当筛查和治疗新生儿高胆红素血症
6. Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects [O] . Jirair K. Bedoyan, Rosemary Hage, Ha Kyung Shin, 2020

机译：丙酮酸脱氢酶复杂缺陷筛选特异性氨基酸比和与先天性乳酸中毒和新生儿筛查前景相关的其他线粒体障碍
7. Neuropathy in childhood mitochondrial disease, including riboflavin transporter deficiency: phenotype, neurophysiology and disease-modifying therapy in a recently described treatable disorder [O] . Menezes Manoj Peter 2015

机译：儿童线粒体疾病（包括核黄素转运蛋白缺乏症）的神经病变：最近描述的可治疗疾病的表型，神经生理学和疾病缓解疗法

RIBOFLAVIN TRANSPORTER DEFICIENCY: A RARE, TREATABLE DISORDER THAT HAS POTENTIAL TO BE DETECTED ON THE NEWBORN SCREEN

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