Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism-Reference-Cited by-同舟云学术

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism

Published:2018-11 Issue: Volume:202 Page:272-278.e4
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Ponzi Emanuela,Maiorana Arianna,Lepri Francesca Romana,Mucciolo Mafalda,Semeraro Michela,Taurisano Roberta,Olivieri Giorgia,Novelli Antonio,Dionisi-Vici Carlo^ORCID

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference40 articles.

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4. Molecular genetic dissection and neonatal/infantile intrahepatic cholestasis using targeted next-generation sequencing;Togawa;J Pediatr,2016

5. Clinical validation of targeted next-generation sequencing for inherited disorders;Yohe;Arch Pathol Lab Med,2015

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1. Congenital disorders of glucose metabolism in adults with nondiabetic hypoglycemia;Obesity and metabolism;2024-06-17

2. Congenital hyperinsulinism of a large Italian cohort: a retrospective study;Hormone Research in Paediatrics;2024-05-28

3. Fasting ketone levels vary by age: implications for differentiating physiologic from pathologic ketotic hypoglycemia;Journal of Pediatric Endocrinology and Metabolism;2023-05-11

4. Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects;International Journal of Molecular Sciences;2022-07-22

5. Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI;Orphanet Journal of Rare Diseases;2022-06-20