A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency

Mapping the Severity of Phenylalanine Hydroxylase Deficiency.

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Toward personalized treatment in phenylketonuria: Intra-individual variation of in vivo phenylalanine oxidation using the 13C-phenylalanine breath test.

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European guidelines on diagnosis and treatment of phenylketonuria: First revision.

Molecular genetics and metabolism·2025

Inter-individuality in the transport and effect of phenylalanine in the brain: A double case report of two 'unusual' phenylketonuria patients.

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Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

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Targeting tumour metabolism in melanoma to enhance response to immune checkpoint inhibition: A balancing act.

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Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.

Journal of inherited metabolic disease·2026

Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

Journal of inherited metabolic disease·2026

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

Journal of inherited metabolic disease·2026

Genome Editing for Glycogen Storage Diseases.

Journal of inherited metabolic disease·2026

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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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Urologic oncology·2026

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Cellular signalling·2026

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Magnetic resonance imaging·2026

Neutrophil elastase-mediated myoepithelial loss is a therapeutic vulnerability in ductal carcinoma in situ progression.

Cell reports. Medicine·2026

Value of kinetic parameters of ultra-fast dynamic contrast-enhanced magnetic resonance inaging (MRI) for differentiating malignant and benign breast lesions: a retrospective study.

Clinical radiology·2026

Volatilomics for breast cancer diagnosis: A narrative review across biological matrices and clinical applications.

Talanta·2026

Related Experiment Videos

A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency

Related Concept Videos

Mapping the Severity of Phenylalanine Hydroxylase Deficiency.

Toward personalized treatment in phenylketonuria: Intra-individual variation of in vivo phenylalanine oxidation using the 13C-phenylalanine breath test.

European guidelines on diagnosis and treatment of phenylketonuria: First revision.

Inter-individuality in the transport and effect of phenylalanine in the brain: A double case report of two 'unusual' phenylketonuria patients.

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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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A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency

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