Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency

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

Journal of neurology·2018

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

Parkinsonism & related disorders·2017

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.

Psychological medicine·2016

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

Human genetics·2015

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

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

Journal of inherited metabolic disease·2026

Misfolding of cystathionine beta-synthase impairs mitochondrial homeostasis and cellular bioenergetics.

Free radical biology & medicine·2026

Red Blood Cell Parameters as Cost-effective Biomarkers in Normal and Altered Glycemic States: A Cross-sectional Study.

International journal of applied & basic medical research·2026

Integrated Assessment of Stress Hyperglycemia and Glycemic Variability for Mortality Prediction in Non-St-Segment Elevation Myocardial Infarction and St-Segment Elevation Myocardial Infarction: A Glycometabolic Phenotype-Stratified Analysis.

Reviews in cardiovascular medicine·2026

Integrated Oral Microbiome and Metabolome Profiling Identifies Disease-Associated Multi-Omics Signatures in Alström and Bardet-Biedl Syndromes.

Computational and structural biotechnology journal·2026

Agaricus bisporus polysaccharides alleviate high-fat diet-induced cognitive impairment via microbiota-gut-brain axis modulation.

Food research international (Ottawa, Ont.)·2026

Robustness of mediolateral stability measures to different operationalizations of the center of mass and base of support.

Journal of biomechanics·2026

Related Experiment Videos

Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency

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.

Feedback learning and behavior problems after pediatric traumatic brain injury.

'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.

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.

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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.

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

Misfolding of cystathionine beta-synthase impairs mitochondrial homeostasis and cellular bioenergetics.

Red Blood Cell Parameters as Cost-effective Biomarkers in Normal and Altered Glycemic States: A Cross-sectional Study.

Integrated Assessment of Stress Hyperglycemia and Glycemic Variability for Mortality Prediction in Non-St-Segment Elevation Myocardial Infarction and St-Segment Elevation Myocardial Infarction: A Glycometabolic Phenotype-Stratified Analysis.

Integrated Oral Microbiome and Metabolome Profiling Identifies Disease-Associated Multi-Omics Signatures in Alström and Bardet-Biedl Syndromes.

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Related Experiment Videos

Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency

Related Concept Videos

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