[Sandhoff disease or GM2 gangliosidosis, type 2. High frequency of the gene in a native population]

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

[Guide to approaching the first demyelinating event in pediatrics].

Medicina·2026

[Recommendations for the diagnosis and treatment of optic neuromyelitis in children and adolescents].

Medicina·2026

[Disease associated with anti-myelin oligodendrocyte glycoprotein (MOGAD)].

Medicina·2026

[Update guide on pediatric multiple sclerosis].

Medicina·2026

[Guidelines for Serotonin Syndrome in Pediatrics].

Medicina·2026

[Neuroleptic Malignant Syndrome].

Medicina·2026

Switching from mepolizumab to benralizumab in eosinophilic granulomatosis with polyangiitis (EGPA).

Chest·2026

Construction of a Gordonia amarae shuttle vector using plasmid p1 replicon.

Gene·2026

Giant Cell Tumor of the Distal Phalanx of the Great Toe: Case Report.

Journal of orthopaedic case reports·2026

LOCC-GER - A georeferenced local climate policy database for Germany.

Scientific data·2026

Contribution and feasibility of general practitioners-community pharmacists practice groups in France: Insights from participating general practitioners

Sante publique (Vandoeuvre-les-Nancy, France)·2026

Mortality in generalized myasthenia gravis among Medicare beneficiaries in the United States.

Current medical research and opinion·2026

Related Experiment Videos

[Sandhoff disease or GM2 gangliosidosis, type 2. High frequency of the gene in a native population]

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.

[Guide to approaching the first demyelinating event in pediatrics].

[Recommendations for the diagnosis and treatment of optic neuromyelitis in children and adolescents].

[Disease associated with anti-myelin oligodendrocyte glycoprotein (MOGAD)].

[Update guide on pediatric multiple sclerosis].

[Guidelines for Serotonin Syndrome in Pediatrics].

[Neuroleptic Malignant Syndrome].

Switching from mepolizumab to benralizumab in eosinophilic granulomatosis with polyangiitis (EGPA).

Construction of a Gordonia amarae shuttle vector using plasmid p1 replicon.

Giant Cell Tumor of the Distal Phalanx of the Great Toe: Case Report.

LOCC-GER - A georeferenced local climate policy database for Germany.

Contribution and feasibility of general practitioners-community pharmacists practice groups in France: Insights from participating general practitioners

Mortality in generalized myasthenia gravis among Medicare beneficiaries in the United States.

Related Experiment Videos

[Sandhoff disease or GM2 gangliosidosis, type 2. High frequency of the gene in a native population]

Related Concept Videos

Related Articles