机译:维生素D依赖性佝偻病型1B型(25-羟化酶缺乏):罕见的病症或误诊病症?
CHU de CaenDepartment of Genetics Molecular Genetics Laboratory and Reference Center for Rare;
CHU de NancyDepartment of Pediatrics and Reference Center for Rare Hereditary Diseases of;
Queen's UniversityDepartment of Biomedical and Molecular SciencesKingston Canada;
Queen's UniversityDepartment of Biomedical and Molecular SciencesKingston Canada;
CHU de NancyDepartment of Pediatrics and Reference Center for Rare Hereditary Diseases of;
Université de LorraineMedical SchoolVandoeuvre‐lès‐Nancy France;
CHU de NancyDepartment of BiochemistryVandoeuvre‐lès‐Nancy France;
Université de LorraineMedical SchoolVandoeuvre‐lès‐Nancy France;
CHU de CaenDepartment of Genetics Molecular Genetics Laboratory and Reference Center for Rare;
CHU de CaenDepartment of Genetics Molecular Genetics Laboratory and Reference Center for Rare;
CHU de CaenDepartment of Genetics Molecular Genetics Laboratory and Reference Center for Rare;
CHU de CaenDepartment of Genetics Molecular Genetics Laboratory and Reference Center for Rare;
Université de LorraineMedical SchoolVandoeuvre‐lès‐Nancy France;
CHU de NancyDepartment of GeneticsVandoeuvre‐lès‐Nancy France;
Queen's UniversityDepartment of Biomedical and Molecular SciencesKingston Canada;
CHU de CaenDepartment of Genetics Molecular Genetics Laboratory and Reference Center for Rare;
CHU de NancyDepartment of Pediatrics and Reference Center for Rare Hereditary Diseases of;
RICKETS; VITAMIN D; 25‐HYDROXYLASE; GENETICS; PERSONALIZED MEDICINE;
机译:维生素D依赖性佝偻病型1B型(25-羟化酶缺乏):罕见的病症或误诊病症?
机译:明显的常染色体显性维生素D 25-羟化酶缺乏症cket中CYP2R1基因编码区的突变。
机译:中国维生素D依赖型rick病I型患者的新型维生素D1α-羟化酶基因突变
机译:胆汁酸生物合成酶的多功能作用及新维生素D 25-羟化酶的分离
机译:急性心肌梗死患者中25-羟基维生素D缺乏与NT-pro BNP水平的相关性。
机译:II型维生素D依赖性病。 125-二羟基维生素D3在培养的皮肤成纤维细胞中对25-羟基维生素D3-24-羟化酶的诱导缺陷。
机译:人25羟维生素D-1-羟化酶的克隆和1型维生素D依赖型cket病的突变