Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasma

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study.

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Non-motor symptoms and quality of life in dopa-responsive dystonia patients.

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Development and validation of a severity scoring system for Zellweger spectrum disorders.

Clinical genetics·2017

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

Molecular genetics and metabolism reports·2016

Feedback learning and behavior problems after pediatric traumatic brain injury.

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Human genetics·2015

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Journal of inherited metabolic disease·2026

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

Journal of inherited metabolic disease·2026

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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

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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

Biomarker Insights into Diabetic Foot Ulcers: Evaluating Pentraxin-3 and Netrin-1 for Diagnosis and Clinical Associations.

The international journal of lower extremity wounds·2026

The Divergent Metabolomic Landscape of COVID-19 and Community-Acquired Pneumonia.

Critical care explorations·2026

Plasma proteomic profiling of septic shock and acute pancreatitis identifies shared signatures and disease-specific pathways.

Scientific reports·2026

Mitochondrial hub: the integrative axis connecting ferroptosis and metabolic reprogramming in periodontitis.

Molecular biology reports·2026

Endoprosthetic reconstruction versus osteosynthesis for metastatic disease of the proximal femur: a population-based cohort study.

Journal of bone oncology·2026

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EJIFCC·2026

Related Experiment Videos

Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasma

Related Concept Videos

Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study.

Non-motor symptoms and quality of life in dopa-responsive dystonia patients.

Development and validation of a severity scoring system for Zellweger spectrum disorders.

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation.

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Peroxisomal disorders: concentrations of metabolites in cerebrospinal fluid compared with plasma

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