Related Experiment Videos
Screening of mtDNA mutations in Italian LHON pedigrees
C Carducci1, A M De Negri, V Leuzzi
1Dipartimento di Medicina Sperimentale e Patologia, Università la Sapienza, Rome, Italy.
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.
European guidelines on diagnosis and treatment of phenylketonuria: First revision.
Molecular genetics and metabolism·2025
Fetal aortic isthmus Doppler assessment to predict the adverse perinatal outcomes associated with fetal growth restriction: systematic review and meta-analysis.
Archives of gynecology and obstetrics·2023
Post-traumatic stress disorder (PTSD) in parents of children with type 1 diabetes during Covid-19 pandemic.
Italian journal of pediatrics·2021
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
From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.
Journal of inherited metabolic disease·2026
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders.
Journal of inherited metabolic disease·2026
Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.
Journal of inherited metabolic disease·2026
Glucose-to-albumin ratio and mortality in ICU patients with acute pancreatitis.
Open medicine (Warsaw, Poland)·2026
Clinical spectrum and survival outcomes of malignancies in pediatric patients with inborn errors of immunity.
Frontiers in immunology·2026
Crosstalk Between CTSB+ Glioblastoma Cells and S100A10+ Macrophages: A Self-Reinforcing Circuit Promotes Immune Evasion and Limits Response to Immunotherapy.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026
Serum IL-38 and the rs7599662 polymorphism: novel biomarkers for pediatric idiopathic nephrotic syndrome.
Italian journal of pediatrics·2026