Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.

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Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial.

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Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression.

Molecular genetics and metabolism·2022

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith-Magenis syndrome: protocol for a series of N-of-1 trials.

Orphanet journal of rare diseases·2021

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.

Molecular genetics and metabolism·2018

High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.

JIMD reports·2017

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.

Journal of inherited metabolic disease·2026

International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).

Journal of inherited metabolic disease·2026

Mitochondrial Dysfunction Across Renal Compartments in Diabetic Kidney Disease.

Diabetes·2026

Cardiac fibrosis and heart failure: Metabolic stress, circadian dysregulation, and extracellular matrix remodeling.

Chronobiology international·2026

Cardioprotective Effect of Metformin Treatment in Mouse Model of Experimental Autoimmune Myocarditis.

Cardiovascular therapeutics·2026

Rare Mendelian CYP Disorders: From Metabolic Pathways to Biomarker-Guided Diagnosis.

Drug metabolism reviews·2026

Untargeted Urinary Metabolomic Profiling Reveals Metabolic Signatures Associated with Anhedonia Severity-Stratified Subgroups in Major Depressive Disorder.

Neuropsychiatric disease and treatment·2026

Role of the Hepatorenal Index in the Detection of HbA1c-Defined Dysglycemia in Patients With Non-alcoholic Fatty Liver Disease: A Cross-Sectional Study.

Cureus·2026

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Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts

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Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.

Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial.

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Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts

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