Sudden death in an infant with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Towards annual updating of forced warming to date and constrained climate projections.

Nature communications·2025

Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.

Gene therapy·2023

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.

Molecular genetics and metabolism reports·2020

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.

Scientific reports·2017

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

JIMD reports·2016

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

JIMD reports·2014

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

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

Imperfect Oriented Attachment of Gold Nanoparticles.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Perovskite Oxide Interfaces Tailored by Cation Ordering Periodicities: Experimentally Resolved Atomic Structure and Predicted Magnetic Coupling.

ACS applied materials & interfaces·2026

Modulatory effects of methyl gallate on the inflammatory response in gout arthritis via P2X7 receptor.

Anais da Academia Brasileira de Ciencias·2026

Mitigating Crystallographic Orientation Effect in SIMS: In-Depth Characterization of Rutile (TiO2) Oxygen Isotopes.

Analytical chemistry·2026

When Crystalloids Tell the Story: Amylase Crystalloids in Salivary Gland Cytology.

Cytopathology : official journal of the British Society for Clinical Cytology·2026

Intralayer Hydrogen Bonds from Coordinated Water and X-ray Detection Performance in a Large-Sized 2D Rare-Earth Hybrid Perovskite Single crystal.

Inorganic chemistry·2026

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Sudden death in an infant with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Related Concept Videos

Towards annual updating of forced warming to date and constrained climate projections.

Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.

A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities.

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.

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Sudden death in an infant with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

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