期刊
VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
卷 436, 期 1, 页码 1-5出版社
SPRINGER VERLAG
DOI: 10.1007/PL00008192
关键词
congenital hyperinsulinism; persistent hyperinsulinemic hypoglycemia nesidioblastosis; molecular basis; pancreatic pathology; classification
类别
Recent advances in molecular genetics have established a molecular basis for persistent hyperinsulinemic hypoglycemia of infancy (PHHI) and resulted in the identification of a number of well-defined genetic defects. On the basis of the available information on the molecular changes so far described, an attempt has been made to classify PHHI patients according to their genotype and phenotype, with reference to molecular genetics, pancreatic pathology and clinical appearance. This classification has resulted in the differentiation of three groups of PHHI patients, two with diffuse beta cell hyperfunction and one with focal beta cell hyperfunction.
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