Related Experiment Videos
Glycogen storage disease type IV presenting as hydrops fetalis
Journal of Inherited Metabolic Disease
|June 29, 1999
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Reducing stigma among vulnerable populations with TB: insights from a community intervention.
The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease·2026
Diagnostic accuracy of pre-hospital invasive arterial blood pressure monitoring for haemodynamic management in traumatic brain injury and spontaneous intracranial haemorrhage.
Scandinavian journal of trauma, resuscitation and emergency medicine·2025
Antimicrobial prophylaxis in companion animal surgery: A scoping review for European Network for Optimization of Antimicrobial Therapy (ENOVAT) guidelines.
Veterinary journal (London, England : 1997)·2024
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.
Frontiers in cell and developmental biology·2024
Radiofrequency therapy as an effective treatment for granulomatous cheilitis: A CARE case report.
European annals of otorhinolaryngology, head and neck diseases·2023
From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis.
Journal of inherited metabolic disease·2026
Proteo-Metabolomic Profiling of PMM2-CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo-Inositol, and the Hexosamine Pathway.
Journal of inherited metabolic disease·2026
High-Protein Diet Ameliorates Cardiomyopathy in a Cardiac-Specific AGL Knockout Mouse Model: Association With Upregulated Hepatic Gluconeogenesis.
Journal of inherited metabolic disease·2026
Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives.
Journal of inherited metabolic disease·2026
Baat-Deficient Mice Recapitulate Elevated 7α-Hydroxy-3-Oxo-4-Cholestenoic Acid Observed in a Japanese Patient With BAAT Deficiency.
Journal of inherited metabolic disease·2026
Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.
Journal of inherited metabolic disease·2026
Clinical decision framework for sublingual hematoma: literature-based retrospective analysis with machine learning.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery·2026
Simultaneous Appearance of Immunoglobulin A Nephropathy and Tubulointerstitial Nephritis and Uveitis Syndrome: A Case Report.
Case reports in nephrology and dialysis·2026
Differential Expression of SERCA and Myosin Heavy Chain Isoforms in Rat Laryngeal Muscles.
International archives of otorhinolaryngology·2026
Immune mechanism of IgA vasculitis with nephritis: a narrative review.
Frontiers in immunology·2026