Related Experiment Videos
Identification of Fabry disease in two brothers
E Beyer1, E Djatlovitskaya, O Zairatyants
1Institute of Biological and Medical Chemistry, Academy of Medical Sciences, USSR, Moscow.
Journal of Inherited Metabolic Disease
|January 1, 1990
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Clinical standards for antimicrobial stewardship in TB care.
IJTLD open·2025
Impact of pharmacist-prescriber partnerships to track antibiotic prescribing in publicly funded primary care in the Cape Town metropole, South Africa: An implementation study.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde·2025
Miocene and Pliocene ice and air from the Allan Hills blue ice area, East Antarctica.
Proceedings of the National Academy of Sciences of the United States of America·2025
81Kr dating of 1 kg Antarctic ice.
Nature communications·2025
High-flow nasal oxygen in resource-constrained, non-intensive, high-care wards for COVID-19 acute hypoxaemic respiratory failure: Comparing outcomes of the first v. third waves at a tertiary centre in South Africa.
African journal of thoracic and critical care medicine·2024
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
Blood Glucose Homeostasis is Preserved in Patients with Mild-to-moderate Spinocerebellar Ataxia Type 2.
Cerebellum (London, England)·2026
Amino Acid Metabolism in Health and Disease.
MedComm·2026