Related Experiment Videos
Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels
E Riudor1, J A Arranz, R Anguera
1Hospital Materno-Infantil Vall d'Hebrón, Barcelona, Spain.
Journal of Inherited Metabolic Disease
|October 8, 1998
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Towards annual updating of forced warming to date and constrained climate projections.
Nature communications·2025
An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.
Molecular genetics and metabolism reports·2020
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.
Revue neurologique·2018
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
Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.
Journal of inherited metabolic disease·2026
Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.
Journal of inherited metabolic disease·2026
Management of cryptozoospermia.
Current opinion in urology·2026
Safety and Efficacy of Magnetic Compression Anastomosis for Treatment of Complete Benign Biliary Strictures: A Systematic Review and Meta-Analysis.
Surgical laparoscopy, endoscopy & percutaneous techniques·2026
Misfolding of cystathionine beta-synthase impairs mitochondrial homeostasis and cellular bioenergetics.
Free radical biology & medicine·2026
Red Blood Cell Parameters as Cost-effective Biomarkers in Normal and Altered Glycemic States: A Cross-sectional Study.
International journal of applied & basic medical research·2026