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

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

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Molecular genetics and metabolism reports·2020

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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.

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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.

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From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.

Journal of inherited metabolic disease·2026

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Methods and applications in fluorescence·2026

Molecular insights into the role of a disordered chaperone-like protein "Alr0806" in cyanobacterial stress responses.

International journal of biological macromolecules·2026

Growth and interface formation in CeO x -Ni(111) inverse model catalysts.

Nanoscale advances·2026

Solute-Induced Nonplanar Ice Growth Facilitates Space-Confined Polymerization for Two-Dimensional Polymer Sheets.

Small (Weinheim an der Bergstrasse, Germany)·2026

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Angewandte Chemie (International ed. in English)·2026

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Antioxidants (Basel, Switzerland)·2026

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

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