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Enterokinase deficiency with novel TMPRSS15 gene mutation masquerading as acrodermatitis enteropathica.
Pediatr Dermatol
March 2023
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.
Article Synopsis
- - Enterokinase deficiency (EKD) is a rare inherited disorder caused by mutations in the TMPRSS15 gene, with only 12 known cases reported so far.
- - A new case involved a female infant with a specific mutation (c.1216C>T, p.R406*) exhibiting skin lesions similar to acrodermatitis enteropathica (AE).
- - After starting a protein-rich hydrolyzed formula, the infant's skin condition improved significantly in just 11 days, indicating that AE-like rashes can be linked to EKD and broadening the understanding of TMPRSS15 mutations.
Enterokinase Deficiency: A Case of Pancreatic Insufficiency.
Indian J Pediatr
August 2021
Department of Pediatrics, Kanchi Kamakoti CHILDS Trust Hospital, Chennai, Tamil Nadu, India.
50 Years Ago in TheJournalofPediatrics: Exocrine Pancreas Insufficiency: Supplementing Our Way to Success.
J Pediatr
April 2021
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
Novel Compound Heterozygous Gene Variants Cause Enterokinase Deficiency.
Front Genet
September 2020
Department of Gastroenterology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Background: Enterokinase deficiency (EKD) is a rare autosomal recessively inherited disorder mainly characterized by diarrhea, hypoproteinemia and failure to thrive in infancy. Loss-of-function variants in the gene cause EKD.
Methods: We report the clinical manifestations and molecular basis of EKD in a Chinese child.
Congenital diseases of the gastrointestinal tract.
Georgian Med News
May 2014
Prof. em. Pediatrics, Zentrum für Kinderheilkunde, Bonn University, Germany.
With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.
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