Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-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

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

From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.

Journal of inherited metabolic disease·2026

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

Ticks Recovered from Opportunistically Examined Greater Grisons (Galictis vittata) in Veracruz, Mexico.

Acta parasitologica·2026

Retraction notice to "Unveiling the relationship between food unit operations and food industry 4.0: A short review" [Heliyon 10 (2024) e39388].

Heliyon·2026

Unwitnessed rattlesnake envenomation: a difficult diagnosis.

BMJ case reports·2026

Lemmel Syndrome: A Case Report.

Cureus·2026

RETRACTED: Kim et al. The Angiogenesis Inhibitor ALS-L1023 from Lemon-Balm Leaves Attenuates High-Fat Diet-Induced Nonalcoholic Fatty Liver Disease Through Regulating the Visceral Adipose-Tissue Function. Int. J. Mol. Sci. 2017, 18, 846.

International journal of molecular sciences·2026

Oats in Gluten-Free Diets: An Examination of the Codex Standard and Country-Specific Differences in Gluten-Free-Food Labeling Regulations, for Oats and Oats Declared as Ingredients in Gluten-Free Products.

Nutrition reviews·2026

Related Experiment Videos

Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-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.

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.

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

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Ticks Recovered from Opportunistically Examined Greater Grisons (Galictis vittata) in Veracruz, Mexico.

Retraction notice to "Unveiling the relationship between food unit operations and food industry 4.0: A short review" [Heliyon 10 (2024) e39388].

Unwitnessed rattlesnake envenomation: a difficult diagnosis.

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RETRACTED: Kim et al. The Angiogenesis Inhibitor ALS-L1023 from Lemon-Balm Leaves Attenuates High-Fat Diet-Induced Nonalcoholic Fatty Liver Disease Through Regulating the Visceral Adipose-Tissue Function. Int. J. Mol. Sci. 2017, 18, 846.

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Related Experiment Videos

Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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