Related Experiment Videos
Macrocephaly as the presenting feature of L-2-hydroxyglutaric aciduria in a 5-month-old boy
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.
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.
Frontiers in cell and developmental biology·2024
Saliva in the Diagnosis of COVID-19: A Review and New Research Directions.
Journal of dental research·2020
Molecular picture of cobalamin C/D defects before and after newborn screening era.
Journal of medical screening·2016
Suboptimal push-out bond strengths of calcium silicate-based sealers.
International endodontic journal·2015
Evolution of an influenza pandemic in 13 countries from 5 continents monitored by protein microarray from neonatal screening bloodspots.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology·2014
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
Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.
Journal of inherited metabolic disease·2026
Mechanistic blockade of RSV infection by a pre-F targeting single-domain antibody-Fc fusion protein.
Antimicrobial agents and chemotherapy·2026
Research Staff's Experiences of Applying the UNCRC in Clinical Research Involving Young Children-An Ongoing Process of Ethical Judgement.
Acta paediatrica (Oslo, Norway : 1992)·2026
Early Palliative Care Is Feasible and Acceptable in Pediatric Neuro-Oncology.
Pediatric blood & cancer·2026
Biologics in pediatric chronic rhinosinusitis with nasal polyps: A systematic review of efficacy and safety.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology·2026