Literature DB >> 31529156

Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Answers.

Laura Betcherman1, Mathieu Lemaire2, Christoph Licht2, David Chitayat3, Jennifer Harrington4, Damien Noone2.   

Abstract

Entities:  

Year:  2019        PMID： 31529156     DOI： 10.1007/s00467-019-04348-x

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  21 in total

1.  Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.

Authors:  Nicola Improda; Pratik Shah; Maria Güemes; Clare Gilbert; Kate Morgan; Neil Sebire; Detlef Bockenhauer; Khalid Hussain
Journal:  Horm Res Paediatr       Date:  2016-06-01       Impact factor: 2.852

2.  Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

Authors:  Diana E Stanescu; Nkecha Hughes; Bernard Kaplan; Charles A Stanley; Diva D De León
Journal:  J Clin Endocrinol Metab       Date:  2012-07-16       Impact factor: 5.958

3.  Hepatocellular Carcinoma in Fanconi-Bickel Syndrome.

Authors:  Jennifer Pogoriler; Allison F O'Neill; Stephan D Voss; Robert C Shamberger; Antonio R Perez-Atayde
Journal:  Pediatr Dev Pathol       Date:  2017-04-06

Review 4.  Genetic characteristics of patients with congenital hyperinsulinism.

Authors:  Mary Ellen Vajravelu; Diva D De León
Journal:  Curr Opin Pediatr       Date:  2018-08       Impact factor: 2.856

Review 5.  Renal Fanconi syndrome: taking a proximal look at the nephron.

Authors:  Enriko D Klootwijk; Markus Reichold; Robert J Unwin; Robert Kleta; Richard Warth; Detlef Bockenhauer
Journal:  Nephrol Dial Transplant       Date:  2014-12-09       Impact factor: 5.992

6.  Urinary calcium and oxalate excretion in children.

Authors:  G S Reusz; M Dobos; D Byrd; P Sallay; M Miltényi; T Tulassay
Journal:  Pediatr Nephrol       Date:  1995-02       Impact factor: 3.714

7.  Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

Authors:  Ewan R Pearson; Sylvia F Boj; Anna M Steele; Timothy Barrett; Karen Stals; Julian P Shield; Sian Ellard; Jorge Ferrer; Andrew T Hattersley
Journal:  PLoS Med       Date:  2007-04       Impact factor: 11.069

8.  Fanconi-Bickel syndrome - mutation in SLC2A2 gene.

Authors:  Mohit Kehar; Sunita Bijarnia; Sian Ellard; Jayne Houghton; Renu Saxena; I C Verma; Nishant Wadhwa
Journal:  Indian J Pediatr       Date:  2014-06-10       Impact factor: 1.967

9.  An Atypical HNF4A Mutation Which Does Not Conform to the Classic Presentation of HNF4A-MODY.

Authors:  Andrew J Spiro; Katherine N Vu; Alicia Lynn Warnock
Journal:  Case Rep Endocrinol       Date:  2018-05-28

Review 10.  HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature.

Authors:  Jiaojiao Liu; Qian Shen; Guomin Li; Hong Xu
Journal:  J Med Case Rep       Date:  2018-07-14
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