Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 6 publications
The Evaluation of Molecular Genetics and Clinical Manifestations in Patients With LZTR1-Associated Noonan Syndrome: A Retrospective Chart Review and Review of Literature.
Journal: American journal of medical genetics. Part A
Published: April 01, 2026
Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.
Journal: Pediatric dermatology
Published: May 12, 2025
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Journal: Molecular genetics and metabolism reports
Published: October 19, 2021
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.
Journal: Molecular genetics and metabolism
Published: September 29, 2021
Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study.
Journal: Molecular genetics and metabolism reports
Published: July 24, 2019
Showing 1-6 of 6
Last Updated: 09/26/2026