Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.

Journal of inherited metabolic disease·2026

The impact of frailty on functional recovery after cardiac surgery-a case control study.

Perioperative medicine (London, England)·2025

Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.

Molecular genetics and metabolism reports·2025

Utilisation of CO2 as "Structure Modifier" of Inorganic Solids.

Chemistry (Weinheim an der Bergstrasse, Germany)·2021

Malignant brain tumors in patients with glutaric aciduria type I.

Molecular genetics and metabolism·2018

The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies.

EJIFCC·2017

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

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

Case Report: A case of acute kidney injury due to star fruit-infused liquor.

Frontiers in medicine·2026

Correction: Kamińska et al. Behavior at Air/Water Interface and Oxidative Stability of Vegetable Oils Analyzed Through Langmuir Monolayer Technique. Molecules 2025, 30, 170.

Molecules (Basel, Switzerland)·2026

Acute Bilateral Corneal Oedema Following Suspected Toxic Endothelial Insult: An Intriguing Case Report.

Cureus·2026

Novel MORC2 variants in Charcot-Marie-Tooth disease type 2Z: genetic and functional insights.

Frontiers in medicine·2026

[Exogenous ochronosis: An underdiagnosed cause of acquired facial hyperpigmentation].

Annales de pathologie·2026

Nitrous Oxide-Induced Pancytopenia and Peripheral Neuropathy From Chronic Whip-It™ Use: A Case Report.

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Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.

The impact of frailty on functional recovery after cardiac surgery-a case control study.

Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.

Utilisation of CO2 as "Structure Modifier" of Inorganic Solids.

Malignant brain tumors in patients with glutaric aciduria type I.

The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies.

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Case Report: A case of acute kidney injury due to star fruit-infused liquor.

Correction: Kamińska et al. Behavior at Air/Water Interface and Oxidative Stability of Vegetable Oils Analyzed Through Langmuir Monolayer Technique. Molecules 2025, 30, 170.

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Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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