Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

Neurologia·2022

Proteostasis regulators as potential rescuers of PMM2 activity.

Biochimica et biophysica acta. Molecular basis of disease·2020

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

Neurologia·2019

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

Revue neurologique·2018

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.

Stem cell research·2018

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

JIMD reports·2017

Genome Editing for Glycogen Storage Diseases.

Journal of inherited metabolic disease·2026

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Journal of inherited metabolic disease·2026

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Journal of inherited metabolic disease·2026

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Journal of inherited metabolic disease·2026

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Journal of inherited metabolic disease·2026

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Journal of inherited metabolic disease·2026

Atherogenic Index of Plasma is Independently Associated With Microalbuminuria in Type 2 Diabetes: A Retrospective Cross-Sectional Study.

Journal of diabetes research·2026

Selenium and vitamin D3 as potential predictive biomarkers of alcohol dependence syndrome severity: a case-control study.

Biomeditsinskaia khimiia·2026

Transcriptome Analysis and Experimental Validation of Palmitoylation- Related Biomarkers in Atherosclerosis.

Combinatorial chemistry & high throughput screening·2026

HNRNPK Lactylation Amplifies Inflammation and Exacerbates Myocardial Ischemia/Reperfusion Injury by Regulating Jag2 Splicing.

Circulation·2026

Associations of the Zhejiang University (ZJU) index with reproductive outcomes in women with polyendocrine metabolic ovarian syndrome: a post-hoc analysis.

Frontiers in nutrition·2026

Sleep disorders and male sexual dysfunction: a meta-analysis of hormonal and erectile outcomes.

Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica·2026

Related Experiment Videos

Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course

Related Concept Videos

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

Proteostasis regulators as potential rescuers of PMM2 activity.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Genome Editing for Glycogen Storage Diseases.

Results From a Phase 2, Open-Label Study Evaluating the Safety, Tolerability, and Effect on Ataxia of GLM101 in Three Adult Patients With PMM2-CDG.

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Atherogenic Index of Plasma is Independently Associated With Microalbuminuria in Type 2 Diabetes: A Retrospective Cross-Sectional Study.

Selenium and vitamin D3 as potential predictive biomarkers of alcohol dependence syndrome severity: a case-control study.

Transcriptome Analysis and Experimental Validation of Palmitoylation- Related Biomarkers in Atherosclerosis.

HNRNPK Lactylation Amplifies Inflammation and Exacerbates Myocardial Ischemia/Reperfusion Injury by Regulating Jag2 Splicing.

Associations of the Zhejiang University (ZJU) index with reproductive outcomes in women with polyendocrine metabolic ovarian syndrome: a post-hoc analysis.

Sleep disorders and male sexual dysfunction: a meta-analysis of hormonal and erectile outcomes.

Related Experiment Videos

Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course

Related Concept Videos

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