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机译:NADK2 NADK2起动损失变体引起的线粒体NAD激酶缺乏的临床异质性
Department of PediatricsVanderbilt University Medical CenterNashville Tennessee;
Laboratory Genetic Metabolic DiseasesAcademic Medical CenterAmsterdam The Netherlands;
Department of PediatricsVanderbilt University Medical CenterNashville Tennessee;
Institute of Medical Genetics School of MedicineHeath Park Cardiff UniversityCardiff United;
Department of PediatricsVanderbilt University Medical CenterNashville Tennessee;
Department of PediatricsVanderbilt University Medical CenterNashville Tennessee;
Department of PediatricsVanderbilt University Medical CenterNashville Tennessee;
Department of PediatricsVanderbilt University Medical CenterNashville Tennessee;
Department of PediatricsVanderbilt University Medical CenterNashville Tennessee;
Department of PediatricsDuke University Medical CenterDurham North Carolina;
Medical College of WisconsinMilwaukee Wisconsin;
Medical College of WisconsinMilwaukee Wisconsin;
Medical College of WisconsinMilwaukee Wisconsin;
Medical College of WisconsinMilwaukee Wisconsin;
Laboratory Genetic Metabolic DiseasesAcademic Medical CenterAmsterdam The Netherlands;
Laboratory Genetic Metabolic DiseasesAcademic Medical CenterAmsterdam The Netherlands;
Department of MedicineVanderbilt University Medical CenterNashville Tennessee;
Department of PediatricsVanderbilt University Medical CenterNashville Tennessee;
Department of PediatricsVanderbilt University Medical CenterNashville Tennessee;
2; 4 dienoyl‐CoA reductase deficiency; hyperlysinemia; NADK2; NADPH; optic atrophy; start‐loss codon;
机译:NADK2 NADK2起动损失变体引起的线粒体NAD激酶缺乏的临床异质性
机译:NADK2,拟南芥叶绿体NAD激酶,在叶绿素合成和叶绿体保护中都起着至关重要的作用
机译:NADK2,拟南芥叶绿体NAD激酶,在叶绿素合成和叶绿体保护中都起着至关重要的作用
机译:并网光伏逆变器停机和启动引起的能量损失
机译:使用纯合子在近亲家庭中发现导致分离的促性腺激素释放激素缺乏的新基因
机译:由NADK2启动损失变异引起的线粒体NAD激酶缺乏症的临床异质性
机译:由于NADK2突变引起的线粒体NADP(H)缺乏导致二烯酰基CoA还原酶缺乏血清血症血症