Last Updated: 09/26/2026
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Found 44 publications
COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.
Journal: International journal of neonatal screening
Published: January 23, 2026
Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration.
Journal: Scientific reports
Published: December 15, 2025
3-Methyl Glutaconic Aciduria and Elevated Plasma Growth Differentiation Factor 15 Level in an Adult with Monoallelic SPG7 Pathogenic Variant.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: August 11, 2025
Clinical utility of untargeted urine oligosaccharide screening.
Journal: Molecular genetics and metabolism
Published: July 23, 2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches.
Journal: Journal of inherited metabolic disease
Published: June 30, 2025
Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 19, 2025
Two-tiered newborn screening for infantile Krabbe disease allows timely treatment initiation and avoids false-positive results.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 13, 2024
Sensitivity of transferrin isoform analysis for PMM2-CDG.
Journal: Molecular genetics and metabolism
Published: May 03, 2024
Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase.
Journal: Molecular genetics and metabolism reports
Published: March 25, 2024
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Journal: Molecular genetics and metabolism
Published: January 02, 2024
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Journal: Journal of inherited metabolic disease
Published: May 11, 2023
Last Updated: 09/26/2026