Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
第一作者:
Magdalena,Adeva
第一单位:
From Divisions of Nephrology (MA, SR, VK, MC, DMM, VET, PCH), Gastroenterology and Hepatology (ME-Y, PSK), and Radiology (BFK), Mayo Clinic College of Medicine, Rochester, Minnesota.
作者:
主题词
青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);儿童(Child);儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);肾功能衰竭, 慢性(Kidney Failure, Chronic);男(雄)性(Male);突变, 误义(Mutation, Missense);表型(Phenotype);多囊肾, 常染色体隐性(Polycystic Kidney, Autosomal Recessive);预后(Prognosis);受体, 细胞表面(Receptors, Cell Surface);回顾性研究(Retrospective Studies);疾病严重程度指数(Severity of Illness Index)
DOI
10.1097/01.md.0000200165.90373.9a
PMID
16523049
发布时间
2022-03-16
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Medicine
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