Dietrich Matern

Biochemistry, Genetics and Molecular Biology · Life Sciences

59h-index10.4kcitations269works1.12yr avg
OpenAlex↗ORCID↗Google Scholar↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Metabolism and Genetic Disorders(130), Lysosomal Storage Disorders Research(60), Mitochondrial Function and Pathology(54), Neonatal Health and Biochemistry(43), Diet and metabolism studies(33)

Publications268 total

First year review of a new urine assay to detect sialic acid disorders
Molecular Genetics and Metabolism·2026Open Access
Performance of endogenous MPS biomarkers as second-tier tests for MPS I and MPS II newborn screening
Molecular Genetics and Metabolism·2026Open Access
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency–Related Neuropathy
Neurology·2025· 2 cited
Clinical utility of untargeted urine oligosaccharide screening
Molecular Genetics and Metabolism·2025· 1 cited
Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease
Genetics in Medicine·2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches
Journal of Inherited Metabolic Disease·2025
In memoriam: Stephen G. Kahler, MD
Molecular Genetics and Metabolism·2025
Two-tiered newborn screening for infantile Krabbe disease allows timely treatment initiation and avoids false-positive results
Genetics in Medicine·2025· 1 cited
Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long‐Chain 3‐Hydroxyacyl‐<scp>CoA</scp> Dehydrogenase Deficiency (<scp>LCHADD</scp>)
Journal of Inherited Metabolic Disease·2025· 3 cited
Biochemical Assay to Aid in the Diagnosis of SORD Deficiency (P7-2.012)
Neurology·2025
Characterizing and validating the small molecule signature of Krabbe disease plasma using untargeted metabolomics analysis
Molecular Genetics and Metabolism·2025
The impact of newborn screening on the age of patients referred for testing and with confirmed diagnoses of Pompe disease and mucopolysaccharidosis type I
Molecular Genetics and Metabolism·2025
P051: Impact of prenatal fentanyl exposure on sterol analysis for Smith-Lemli-Opitz syndrome in newborns
Genetics in Medicine Open·2025Open Access
P003: Glucosylsphingosine and its utility for newborn screening for Gaucher disease*
Genetics in Medicine Open·2025Open Access
College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance
Genetics in Medicine Open·2024· 2 citedOpen Access
iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-<i>HADHA</i> Vector
Investigative Ophthalmology & Visual Science·2024· 2 citedOpen Access
Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine Metabolism
Journal of Molecular Diagnostics·2024· 2 citedOpen Access
Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism
Clinical Chemistry·2024· 3 citedOpen Access
A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis
Analytical and Bioanalytical Chemistry·2024· 3 citedOpen Access
Sensitivity of transferrin isoform analysis for PMM2-CDG
Molecular Genetics and Metabolism·2024· 4 cited
page 1 of 14Next →

Frequent Co-authors

Piero Rinaldo(25), Silvia Tortorelli(11), Devin Oglesbee(9), Mark J Magera(9), Jerry Vockley(8), Dimitar Gavrilov(7), Kimiyo Raymond(7), Coleman Turgeon(5), Jean M. Lacey(4), Mark McCann(4), Barbara K. Burton(4), Jill Franks(4), Kimberly A. Chapman(4), Andrea Gropman(4), Nicholas Ah Mew(4), Eddie Island(4), Erin MacLeod(4), Brittany Smith(4), Kathy Stagni(4), Keiko Ueda(4)