Laura A. Tseng

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 17 publications

Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.

Breaking the chains of lipoprotein lipase deficiency: A pediatric perspective on the efficacy and safety of Volanesorsen.

Journal: Molecular genetics and metabolism

Published: January 02, 2024

A case for newborn screening for pyridoxine-dependent epilepsy.

A case for newborn screening for pyridoxine-dependent epilepsy.

Journal: Cold Spring Harbor molecular case studies

Published: February 26, 2022

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.

Journal: Neurology

Published: February 26, 2022

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes.

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) in adulthood: A Dutch pilot study exploring clinical and patient-reported outcomes.

Journal: Molecular genetics and metabolism reports

Published: February 13, 2022

Clinical Reasoning: Pediatric Seizures of Unknown Cause.

Clinical Reasoning: Pediatric Seizures of Unknown Cause.

Journal: Neurology

Published: September 09, 2021

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.

Journal: Molecular genetics and metabolism

Published: September 08, 2021

Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.

Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.

Journal: Clinical chemistry

Published: September 02, 2021

Treatment of ARS deficiencies with specific amino acids.

Treatment of ARS deficiencies with specific amino acids.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 18, 2021

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

Journal: The Journal of clinical investigation

Published: February 03, 2021

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.

Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.

Journal: Orphanet journal of rare diseases

Published: December 23, 2020

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study.

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: November 08, 2020

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.

Journal: Orphanet journal of rare diseases

Published: August 27, 2020

Showing 1-12 of 17

Last Updated: 09/26/2026