A new case of holocarboxylase synthetase deficiency

Towards annual updating of forced warming to date and constrained climate projections.

Nature communications·2025

Automatic 3D camera positioning in cardiac computed tomography: A phantom study.

Radiography (London, England : 1995)·2025

Evaluation of workload distribution and exposure factors in common use in ten general x-ray rooms in Ireland: An initial step towards protocol optimisation.

Radiography (London, England : 1995)·2025

Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.

Gene therapy·2023

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.

Molecular genetics and metabolism reports·2020

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.

Scientific reports·2017

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

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal of inherited metabolic disease·2026

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

Journal of inherited metabolic disease·2026

Correction: Kamińska et al. Behavior at Air/Water Interface and Oxidative Stability of Vegetable Oils Analyzed Through Langmuir Monolayer Technique. Molecules 2025, 30, 170.

Molecules (Basel, Switzerland)·2026

Acute Bilateral Corneal Oedema Following Suspected Toxic Endothelial Insult: An Intriguing Case Report.

Cureus·2026

Novel MORC2 variants in Charcot-Marie-Tooth disease type 2Z: genetic and functional insights.

Frontiers in medicine·2026

[Exogenous ochronosis: An underdiagnosed cause of acquired facial hyperpigmentation].

Annales de pathologie·2026

Nitrous Oxide-Induced Pancytopenia and Peripheral Neuropathy From Chronic Whip-It™ Use: A Case Report.

Cureus·2026

Abdominal aortic aneurysm in a patient with situs ambiguous and polyspleny (heterotaxy syndrome): a very rare occurrence in vascular surgery! Short literature review.

Surgical and radiologic anatomy : SRA·2026

Related Experiment Videos

A new case of holocarboxylase synthetase deficiency

Related Concept Videos

Towards annual updating of forced warming to date and constrained climate projections.

Automatic 3D camera positioning in cardiac computed tomography: A phantom study.

Evaluation of workload distribution and exposure factors in common use in ten general x-ray rooms in Ireland: An initial step towards protocol optimisation.

Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.

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.

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Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

Correction: Kamińska et al. Behavior at Air/Water Interface and Oxidative Stability of Vegetable Oils Analyzed Through Langmuir Monolayer Technique. Molecules 2025, 30, 170.

Acute Bilateral Corneal Oedema Following Suspected Toxic Endothelial Insult: An Intriguing Case Report.

Novel MORC2 variants in Charcot-Marie-Tooth disease type 2Z: genetic and functional insights.

[Exogenous ochronosis: An underdiagnosed cause of acquired facial hyperpigmentation].

Nitrous Oxide-Induced Pancytopenia and Peripheral Neuropathy From Chronic Whip-It™ Use: A Case Report.

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Related Experiment Videos

A new case of holocarboxylase synthetase deficiency

Related Concept Videos

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