Related Experiment Videos
Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy
P Briones1, M J López, L De Meirleir
1Institut de Bioquímica Clínica, Cerdanyola, Spain.
Journal of Inherited Metabolic Disease
|January 1, 1996
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Carbon source-dependent activation of herbicide-mixture degradation in a synthetic microbial community enriched from black soil.
Journal of hazardous materials·2026
Towards annual updating of forced warming to date and constrained climate projections.
Nature communications·2025
Microbial community in a soilless cultivation system with organic fertilization, biofertilizers and cover crop rotation.
The Science of the total environment·2025
Cataloging olive oil mill wastewater sludge based on toxicological profiles and functional microbial diversity.
The Science of the total environment·2025
Aqueous compost extracts with stabilized biofertilizing microbiota promote plant root growth and drought resilience.
The Science of the total environment·2025
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
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
Cross-Ethnic Replication of Intersectin-1 as a Parkinson's Disease Susceptibility Gene in a Large Chinese Cohort.
Movement disorders : official journal of the Movement Disorder Society·2026
Chromosomal abnormalities in isolated persistent left superior vena cava: A systematic review and meta-analysis.
Turkish journal of obstetrics and gynecology·2026
The rate and spectrum of germline mutations in chicken from a commercial pedigree line.
Genetics, selection, evolution : GSE·2026
Delving into the clinical and genetic spectrum of NLSDM: A case study.
Journal of neuromuscular diseases·2026
Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy.
Molecular genetics & genomic medicine·2026