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The molecular basis of persistent hyperinsulinemic hypoglycemia of infancy and its pathologic substrates
- Source :
- Virchows Archiv : an international journal of pathology. 436(1)
- Publication Year :
- 2000
-
Abstract
- 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.
- Subjects :
- Male
medicine.medical_specialty
Pathology
Genotype
Nesidioblastosis
Biology
Hypoglycemia
medicine.disease_cause
Pathology and Forensic Medicine
Islets of Langerhans
Genotype-phenotype distinction
Molecular genetics
Hyperinsulinism
medicine
Hyperinsulinemia
Humans
Hyperinsulinemic hypoglycemia
Molecular Biology
Infant, Newborn
Infant
Pancreatic Diseases
Cell Biology
General Medicine
medicine.disease
Phenotype
Female
Beta cell
Subjects
Details
- ISSN :
- 09456317
- Volume :
- 436
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Virchows Archiv : an international journal of pathology
- Accession number :
- edsair.doi.dedup.....8bbbf81cfb5aeda042e60a158e803a0c