Disease: Adenosine monophosphate deaminase deficiency
- A diagnostic approach to recurrent myalgia and rhabdomyolysis in children
- Adenosine monophosphate deaminase 3 null mutation causes reduction of naive T cells in mouse peripheral blood
- AMPD2 plays important roles in regulating hepatic glucose and lipid metabolism
- Biologically Aggressive Phenotype and Anti-cancer Immunity Counterbalance in Breast Cancer with High Mutation Rate
- Cytoskeleton protein 4.1R regulates B-cell fate by modulating the canonical NF-κB pathway
- Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study
- Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency
- Epac1 (Exchange Protein Directly Activated by cAMP 1) Upregulates LOX-1 (Oxidized Low-Density Lipoprotein Receptor 1) to Promote Foam Cell Formation and Atherosclerosis Development
- Exercise efficiency impairment in metabolic myopathies
- Genetic confirmation of myoadenylate deaminase deficiency
- Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2
- Hypersomnia with dilated pupils in adenosine monophosphate deaminase (AMPD) deficiency
- Lipopolysaccharide-responsive beige-like anchor acts as a cAMP-dependent protein kinase anchoring protein in B cells
- McArdle disease causing rhabdomyolysis following vaginal delivery
- Metabolic disorders of purine metabolism affecting the nervous system
- Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing
- Myopathy due to deficiency of desaminase myoadenilate induced by atorvastatine
- Neuromodulatory effect of the combination of metformin and vitamin D<sub>3</sub> triggered by purinergic signaling in type 1 diabetes induced-rats
- Nucleotide ecto-enzyme metabolic pattern and spatial distribution in calcific aortic valve disease; its relation to pathological changes and clinical presentation
- Peripartum anaesthetic management of a patient with Brugada syndrome and myoadenylate deaminase deficiency
- Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant
- Proteinuria in AMPD2-deficient mice
- Severe rhabdomyolysis in a heterozygotic patient with myoadenylate deaminase deficiency and SARS-CoV-2 infection
- Skeletal muscle contraction kinetics and AMPK responses are modulated by the adenine nucleotide degrading enzyme AMPD1
- Tolerance to 2,4-Dinitrofluorobenzene‒Induced Contact Hypersensitivity Is Mediated by CD73-Expressing Tissue-Homing Regulatory T Cells
- Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency