Literature DB >> 3342599

Persistent neonatal hyperinsulinism.

P M Mathew1, J M Young, Y K Abu-Osba, B D Mulhern, S Hammoudi, J A Hamdan, A R Sa'di.   

Abstract

Over a 3-year period, the diagnosis of persistent neonatal hyperinsulinism (PNH) was made in seven infants, from an unselected cohort of 18,726 births, all of Saudi Arabian origin. Thus the incidence of PNH was one in 2,675 births. The high incidence, associated consanguinity, and occurrence in siblings suggest that PNH may be inherited as an autosomal recessive disorder.

Entities:  

Mesh：

Year:  1988        PMID： 3342599     DOI： 10.1177/000992288802700307

Source DB:  PubMed          Journal:  Clin Pediatr (Phila)        ISSN： 0009-9228            Impact factor:   1.168


  19 in total

Review 1.  Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders.

Authors:  Charles A Stanley
Journal:  J Clin Endocrinol Metab       Date:  2016-02-23       Impact factor: 5.958

Review 2.  Nesidioblastosis unravelled.

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

Review 3.  Practical management of hyperinsulinism in infancy.

Authors:  A Aynsley-Green; K Hussain; J Hall; J M Saudubray; C Nihoul-Fékété; P De Lonlay-Debeney; F Brunelle; T Otonkoski; P Thornton; K J Lindley
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2000-03       Impact factor: 5.747

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

Review 5.  Congenital hyperinsulinism disorders: Genetic and clinical characteristics.

Authors:  Elizabeth Rosenfeld; Arupa Ganguly; Diva D De Leon
Journal:  Am J Med Genet C Semin Med Genet       Date:  2019-08-14       Impact factor: 3.908

6.  Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.

Authors:  P M Thomas; N Wohllk; E Huang; U Kuhnle; W Rabl; R F Gagel; G J Cote
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025

7.  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

8.  Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

Authors:  V Verkarre; J C Fournet; P de Lonlay; M S Gross-Morand; M Devillers; J Rahier; F Brunelle; J J Robert; C Nihoul-Fékété; J M Saudubray; C Junien
Journal:  J Clin Invest       Date:  1998-10-01       Impact factor: 14.808

9.  Complications of diazoxide treatment in persistent neonatal hyperinsulinism.

Authors:  Y K Abu-Osba; K B Manasra; P M Mathew
Journal:  Arch Dis Child       Date:  1989-10       Impact factor: 3.791

Review 10.  Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.

Authors:  Senthil Senniappan; Balasubramaniam Shanti; Chela James; Khalid Hussain
Journal:  J Inherit Metab Dis       Date:  2012-01-10       Impact factor: 4.982
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.