A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

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

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.

Journal of inherited metabolic disease·2026

Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.

Journal of inherited metabolic disease·2026

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.

Journal of inherited metabolic disease·2026

Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.

Journal of inherited metabolic disease·2026

High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.

Journal of inherited metabolic disease·2026

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.

Journal of inherited metabolic disease·2026

Multidimensional Comparison of Specific Strength Qualities Between Professional and Academy Rugby Union Players.

International journal of sports physiology and performance·2026

Primary Ciliary Dyskinesia: Recent Updates in Its Prevalence and Diagnosis.

Respiratory care·2026

Revealing hidden material composition via physics-induced deep learning for precision clinical diagnosis.

Patterns (New York, N.Y.)·2026

Probing the sound speed and clustering of dark energy.

Science bulletin·2026

Cone beam computed tomography-based morphometric analysis of the coronoid process.

General dentistry·2026

Acute capsaicin supplementation neither interferes with strength endurance nor jumping performance in advanced resistance-trained individuals.

Nutrition and health·2026

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A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

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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.

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