Literature DB >> 2260597

Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): autosomal recessive inheritance in 7 pedigrees.

B Glaser1, M Phillip, R Carmi, E Lieberman, H Landau.   

Abstract

Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) is a rare disease characterized clinically by persistent hypoglycemia with inappropriately elevated circulating insulin concentrations. Here we report on 7 pedigrees including 21 cases. The pedigrees are derived from 3 distinct ethnic groups, and include a very large Bedouin family, and Arab family, and 5 smaller pedigrees of Jewish families all of Eastern European origin. Data obtained from these families and from other families reported in the literature strongly suggest that PHHI is inherited as an autosomal recessive disorder.

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Year:  1990        PMID: 2260597     DOI: 10.1002/ajmg.1320370416

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

1.  Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.

Authors:  P de Lonlay; J C Fournet; J Rahier; M S Gross-Morand; F Poggi-Travert; V Foussier; J P Bonnefont; M C Brusset; F Brunelle; J J Robert; C Nihoul-Fékété; J M Saudubray; C Junien
Journal:  J Clin Invest       Date:  1997-08-15       Impact factor: 14.808

2.  Deciphering the fine-structure of tribal admixture in the Bedouin population using genomic data.

Authors:  B Markus; I Alshafee; O S Birk
Journal:  Heredity (Edinb)       Date:  2013-10-02       Impact factor: 3.821

Review 3.  Nesidioblastosis unravelled.

Authors:  R D Milner
Journal:  Arch Dis Child       Date:  1996-05       Impact factor: 3.791

Review 4.  Genetics of neonatal hyperinsulinism.

Authors:  B Glaser; P Thornton; T Otonkoski; C Junien
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2000-03       Impact factor: 5.747

5.  Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.

Authors:  P M Thomas; G J Cote; D M Hallman; P M Mathew
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

6.  Late presentation of necrotizing enterocolitis associated with rotavirus infection in a term infant with hyperinsulinism on octreotide therapy: A case report.

Authors:  Abdulaziz A Alsaedi; Ayman A Bakkar; Naglaa M Kamal; Jwaher M Althobiti
Journal:  Medicine (Baltimore)       Date:  2017-10       Impact factor: 1.889

  6 in total

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