Related Experiment Videos
Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
K M Gibson1, S B Cassidy, L H Seaver
1Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, TX.
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.
Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use-limiting visual field defects.
Pharmacology research & perspectives·2019
Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder.
Toxicology in vitro : an international journal published in association with BIBRA·2017
Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids.
Molecular genetics and metabolism reports·2017
LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.
Molecular genetics and metabolism reports·2017
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
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
Uncontrolled Hypertension in Cardio-Renal-Metabolic Diseases: Real-World Insights on Patient Profiles and Management Patterns From iCaReMe Global Registry.
International journal of hypertension·2026
Procedural Management of Atrial Fibrillation in Older Patients.
Reviews in cardiovascular medicine·2026
Targeting Inflammation in Atherosclerosis: Mechanistic Rationale, Clinical Trials, and Regulatory Considerations.
Reviews in cardiovascular medicine·2026
The Role of PoCUS in the Diagnosis and Early Monitoring of Cardiogenic Shock in the Emergency Department: A Narrative Review.
Reviews in cardiovascular medicine·2026
Direct Oral Anticoagulants Versus Vitamin K Antagonists for Treatment of Left Ventricular Thrombus: A Review of Efficacy and Safety.
Reviews in cardiovascular medicine·2026