Laura M. Steinbusch

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 17 publications

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

Journal: Journal of inherited metabolic disease
Published: February 10, 2026

Metabolite Erythritol in 24-Hour Urine Is Associated With Higher Intrahepatic Lipid Content: The Maastricht Study.

Metabolite Erythritol in 24-Hour Urine Is Associated With Higher Intrahepatic Lipid Content: The Maastricht Study.

Journal: Diabetes
Published: September 29, 2025

D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?

D-glyceric aciduria due to GLYCTK mutation: Disease or non-disease?

Journal: Molecular genetics and metabolism reports
Published: August 21, 2024

Natural history of three late-diagnosed classic Galactosemia patients.

Natural history of three late-diagnosed classic Galactosemia patients.

Journal: Molecular genetics and metabolism reports
Published: November 15, 2023

Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations.

Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations.

Journal: Orphanet journal of rare diseases
Published: September 01, 2022

Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.

Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.

Journal: Journal of inherited metabolic disease
Published: February 10, 2022

Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.

Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.

Journal: Journal of inherited metabolic disease
Published: February 08, 2021

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.

Journal: Journal of inherited metabolic disease
Published: August 16, 2019

Palmitate-Induced Vacuolar-Type H+-ATPase Inhibition Feeds Forward Into Insulin Resistance and Contractile Dysfunction.

Palmitate-Induced Vacuolar-Type H+-ATPase Inhibition Feeds Forward Into Insulin Resistance and Contractile Dysfunction.

Journal: Diabetes
Published: June 10, 2016

Sex-Specific Control of Fat Mass and Counterregulation by Hypothalamic Glucokinase.

Sex-Specific Control of Fat Mass and Counterregulation by Hypothalamic Glucokinase.

Journal: Diabetes
Published: November 05, 2015

Brain glucose sensing in homeostatic and hedonic regulation.

Brain glucose sensing in homeostatic and hedonic regulation.

Journal: Trends in endocrinology and metabolism: TEM
Published: April 15, 2015

Protein kinase-D1 overexpression prevents lipid-induced cardiac insulin resistance.

Protein kinase-D1 overexpression prevents lipid-induced cardiac insulin resistance.

Journal: Journal of molecular and cellular cardiology
Published: July 18, 2014
Showing 1-12 of 17

Last Updated: 09/26/2026