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

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

Imaging Ionic Displacements Across Inclined Ferroelectric Domains by a Reciprocity Approach to 4D-STEM.

Small (Weinheim an der Bergstrasse, Germany)·2026

Characterization of indochrome C: a novel blue pigment with cryoprotective potential from Arthrobacter antioxidans QL17T isolated from Mount Everest.

Food chemistry·2026

From mystery to modulation: the structural story of Rb2[Si2O5].

Acta crystallographica Section B, Structural science, crystal engineering and materials·2026

Structural transition of solid hydrogen between phases I and II at low temperatures.

The Journal of chemical physics·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.

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

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