Hyperketonaemia in glycerol kinase 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

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

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Journal of inherited metabolic disease·2026

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Journal of inherited metabolic disease·2026

Acid-Base and Electrolyte Disorders: Acid-Base Disorders.

FP essentials·2026

Quantitative analysis of d-amino acids in renal samples using derivatization.

Journal of pharmaceutical and biomedical analysis·2026

Evaluation of acidosis in brain infarction with magnetization transfer ratio asymmetry (MTRasym) and magnetization transfer and relaxation-normalized amide proton transfer rate (MRAPTR) in amide proton transfer-weighted MRI and its influencing factors.

Neuroradiology·2026

Longitudinal Evolution of Neuroimaging Findings in Fucosidosis: Expanding the Neuroradiologic Spectrum.

Cureus·2026

Characterizing Friedreich's ataxia cardiomyopathy with serial cardiac magnetic resonance imagings.

Annals of pediatric cardiology·2026

The lactate-to-albumin ratio as a potential biomarker for acute kidney injury risk in critically ill patients with heart failure: a retrospective study with real-world external validation.

Frontiers in nutrition·2026

Related Experiment Videos

Hyperketonaemia in glycerol kinase 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.

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

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

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

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

Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.

Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.

Acid-Base and Electrolyte Disorders: Acid-Base Disorders.

Quantitative analysis of d-amino acids in renal samples using derivatization.

Evaluation of acidosis in brain infarction with magnetization transfer ratio asymmetry (MTRasym) and magnetization transfer and relaxation-normalized amide proton transfer rate (MRAPTR) in amide proton transfer-weighted MRI and its influencing factors.

Longitudinal Evolution of Neuroimaging Findings in Fucosidosis: Expanding the Neuroradiologic Spectrum.

Characterizing Friedreich's ataxia cardiomyopathy with serial cardiac magnetic resonance imagings.

The lactate-to-albumin ratio as a potential biomarker for acute kidney injury risk in critically ill patients with heart failure: a retrospective study with real-world external validation.

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Hyperketonaemia in glycerol kinase deficiency

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