Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study.
Journal: Genetics in medicine open
Published: April 20, 2024
Tandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: September 20, 2022
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 20, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 15, 2021
Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.
Journal: Pediatric dermatology
Published: December 07, 2020
Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Journal: Cold Spring Harbor molecular case studies
Published: January 07, 2019
Early childhood onset of high-grade atrioventricular block in Hunter syndrome.
Journal: Cardiology in the young
Published: March 07, 2018
Quantification of Free Carnitine and Acylcarnitines in Plasma or Serum Using HPLC/MS/MS.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: November 26, 2015
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Journal: Science translational medicine
Published: December 05, 2014
Showing 1-10 of 10
Last Updated: 09/26/2026