Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.-论文-万方医学网

作者： Kristina,Rücklová ^[1] ; Eva,Hrubá ^[2] ; Markéta,Pavlíková ^[1] ; Petr,Hanák ^[3] ; Martina,Farolfi ^[1] ; Petr,Chrastina ^[1] ; Hana,Vlášková ^[1] ; Bohdan,Kousal ^[1] ; Vratislav,Smolka ^[4] ; Hana,Foltenová ^[5] ; Tomáš,Adam ^[5] ; David,Friedecký ^[6] ; Pavel,Ješina ^[6] ; Jiří,Zeman ^[1] ; Viktor,Kožich ^[1] ; Tomáš,Honzík ^[1]

作者单位： Department of Paediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic. ^[1] Department of Paediatrics, 3rd Faculty of Medicine, Charles University and University Hospital Královské Vinohrady, 100 34 Prague, Czech Republic. ^[2] Department of Probability and Mathematical Statistics, Faculty of Mathematics and Physics, Charles University, 121 16 Prague, Czech Republic. ^[3] Department of Ophthalmology, 1st Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic. ^[4] Department of Paediatrics, Faculty of Medicine and Dentistry, Palacký University and University Hospital Olomouc, 779 00 Olomouc, Czech Republic. ^[5] Institute of Molecular and Translational Medicine, Czech Advanced Technology and Research Institute (CATRIN), Palacký University Olomouc, 779 00 Olomouc, Czech Republic. ^[6]

主题词 3-羟酰CoA脱氢酶类(3-Hydroxyacyl CoA Dehydrogenases);酰基CoA脱氢酶(Acyl-CoA Dehydrogenase);心肌疾病(Cardiomyopathies);肉碱(Carnitine);儿童(Child);儿童, 学龄前(Child, Preschool);捷克共和国(Czech Republic);女(雌)性(Female);人类(Humans);发病率(Incidence);婴儿(Infant);婴儿, 新生(Infant, Newborn);脂质代谢缺陷, 先天性(Lipid Metabolism, Inborn Errors);男(雄)性(Male);代谢缺陷, 先天性(Metabolism, Inborn Errors);线粒体肌病(Mitochondrial Myopathies);新生儿筛查(Neonatal Screening);神经系统疾病(Nervous System Diseases);回顾性研究(Retrospective Studies);横纹肌溶解(Rhabdomyolysis);疾病严重程度指数(Severity of Illness Index)

DOI 10.3390/nu13092925

PMID 34578803

发布时间 2021-11-12

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Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

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Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

Nutrients

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Nutrients

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