Literature DB >> 26487424

Hyperinsulinemic hypoglycemia in a patient with an intragenic NSD1 mutation.

Pilar Carrasco Salas1, Carmen Palma Milla1, José Miguel Lezana Rosales1, Carmen Benito2, Sara Franco Freire2, Juan López Siles1.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2015        PMID: 26487424     DOI: 10.1002/ajmg.a.37440

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  2 in total

1.  Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.

Authors:  Katheryn Grand; Christina Gonzalez-Gandolfi; Amanda M Ackermann; Deema Aljeaid; Emma Bedoukian; Lynne M Bird; Diva D De Leon; Jullianne Diaz; Robert J Hopkin; Sejal P Kadakia; Beth Keena; Karen O Klein; Ian Krantz; Eyby Leon; Katherine Lord; Carey McDougall; Livija Medne; Cara M Skraban; Charles A Stanley; Jennifer Tarpinian; Elaine Zackai; Matthew A Deardorff; Jennifer M Kalish
Journal:  Am J Med Genet A       Date:  2019-02-04       Impact factor: 2.802

Review 2.  Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease.

Authors:  Thomas I Hewat; Matthew B Johnson; Sarah E Flanagan
Journal:  Front Endocrinol (Lausanne)       Date:  2022-07-07       Impact factor: 6.055

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.