[Cystinosis. Clinical report and various biochemical considerations apropos of a case]

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Scientific reports·2014

Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.

Nucleosides, nucleotides & nucleic acids·2007

Maternal mutation 677C > T in the methylenetetrahydrofolate reductase gene associated with severe brain injury in offspring.

Clinical genetics·2004

A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant.

Molecular genetics and metabolism·2004

Genetic polymorphism of thiopurine S-methyltransferase in Argentina.

Annals of clinical biochemistry·2003

A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region.

Human mutation·1998

The effectiveness of a parent-based digital detox intervention to reduce cyber addiction in adolescents aged 12-17: A controlled quasi-experimental study.

Archivos argentinos de pediatria·2026

Performance of an artificial intelligence model for classifying stool consistency in infants.

Archivos argentinos de pediatria·2026

Amiloride for the treatment of cisplatin-induced hypomagnesemia.

Archivos argentinos de pediatria·2026

Acute viral myositis and rhabdomyolysis: A descriptive study.

Archivos argentinos de pediatria·2026

Erythromelalgia secondary to type 1 diabetes mellitus in a pediatric patient: An uncommon presentation.

Archivos argentinos de pediatria·2026

Large-caliber congenital portocaval shunt and hepatopulmonary syndrome: Limitations of closure and the role of liver transplantation.

Archivos argentinos de pediatria·2026

Activated rate processes viewed through unidirectional fluxes at equilibrium, correlation functions, and splitting probabilities.

The Journal of chemical physics·2026

Serum ferritin as an independent biomarker of subclinical synovitis in rheumatoid arthritis patients in clinical remission or low disease activity.

Frontiers in medicine·2026

Application of the String Method to Determine the Ambimodal Nature of Transition States in Bifurcation Reactions.

Journal of computational chemistry·2026

Reconciling Kinetic Dilemma in Photoelectrochemical Water Splitting via Mediating Small Polaron Hopping and Surface Water Oxidation.

Angewandte Chemie (International ed. in English)·2026

Ratiometric Quantification of Dissolved Molecular Oxygen in Microplates for Biochemical Assays Using Palladium Porphyrin Photoluminescence.

ACS omega·2026

Effect of Short Carbonation on Element Mobility in Wood Ash.

ACS omega·2026

Related Experiment Videos

[Cystinosis. Clinical report and various biochemical considerations apropos of a case]

Related Concept Videos

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Hypoxanthine-guanine phosphoribosyltransferase deficiency: biochemical and molecular findings in six Argentine patients.

Maternal mutation 677C > T in the methylenetetrahydrofolate reductase gene associated with severe brain injury in offspring.

A novel missense mutation, c.584A > C (Y195S), in two unrelated Argentine patients with hypoxanthine-guanine phosphoribosyl-transferase deficiency, neurological variant.

Genetic polymorphism of thiopurine S-methyltransferase in Argentina.

A frequent TG deletion near the polyadenylation signal of the human HEXB gene: occurrence of an irregular DNA structure and conserved nucleotide sequence motif in the 3' untranslated region.

The effectiveness of a parent-based digital detox intervention to reduce cyber addiction in adolescents aged 12-17: A controlled quasi-experimental study.

Performance of an artificial intelligence model for classifying stool consistency in infants.

Amiloride for the treatment of cisplatin-induced hypomagnesemia.

Acute viral myositis and rhabdomyolysis: A descriptive study.

Erythromelalgia secondary to type 1 diabetes mellitus in a pediatric patient: An uncommon presentation.

Large-caliber congenital portocaval shunt and hepatopulmonary syndrome: Limitations of closure and the role of liver transplantation.

Activated rate processes viewed through unidirectional fluxes at equilibrium, correlation functions, and splitting probabilities.

Serum ferritin as an independent biomarker of subclinical synovitis in rheumatoid arthritis patients in clinical remission or low disease activity.

Application of the String Method to Determine the Ambimodal Nature of Transition States in Bifurcation Reactions.

Reconciling Kinetic Dilemma in Photoelectrochemical Water Splitting via Mediating Small Polaron Hopping and Surface Water Oxidation.

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[Cystinosis. Clinical report and various biochemical considerations apropos of a case]

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