Related Experiment Videos
Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic
P Klement1, J Zeman, H Hansikova
1Department of Pediatrics, Faculty of Medicine, Charles University, Prague, Czech Republic.
Journal of Inherited Metabolic Disease
|January 1, 1994
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
Physiological research·2024
Czech Footprints in the Bioenergetics Research.
Physiological research·2024
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG.
Molecular genetics and metabolism·2023
Treatment of Fatty Acid Oxidation Disorders Today: Emerging Personalized Treatment Strategies.
Journal of inherited metabolic disease·2026
International Guideline on the Diagnosis, Treatment, and Monitoring of Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD).
Journal of inherited metabolic disease·2026
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
Defining the essential genome of diverse phages with phage Tn-seq.
Nature microbiology·2026
MosaicLev: modified Levenshtein distance for mobile element-aware genome comparison.
Bioinformatics advances·2026
Updated Transposable Element Libraries for Drosophila melanogaster in Dfam 4.0.
bioRxiv : the preprint server for biology·2026
Complete genome sequence of Helicobacter pylori strain NY43 harboring bacteriophage KHP30.
Microbiology resource announcements·2026