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Publications by T Sonin

Clinical, Enzymatic, and Molecular Characterisation of a Portuguese Family With a Chronic Form of GM2-gangliosidosis B1 Variant.

Journal of Medical Genetics
Genetics
1996English

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Biochemical Characterization of the GM2 Gangliosidosis B1 Variant

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GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings

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Deficiency of the Hexosaminidase a Activator Protein in a Case of GM2 Gangliosidosis; Variant AB

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1982English

Different Attenuated Phenotypes of GM2 Gangliosidosis Variant B in Japanese Patients With HEXA Mutations at Codon 499, and Five Novel Mutations Responsible for Infantile Acute Form

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2003English

Partial Deficiency of Beta-Hexosaminidase Activity in Canine GM2-gangliosidosis.

Tohoku Journal of Experimental Medicine
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1987English

377. Significant Therapeutic Benefit After Post-Symptomatic Gene Therapy in a Feline Model of GM2 Gangliosidosis

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2013English

Eosinophilic Esophagitis in Portuguese Children: Clinical and Allergological Characterisation

Clinical and Translational Allergy
ImmunologyPulmonaryAllergyRespiratory Medicine
2015English

711. Intravenous Neonatal Gene Therapy Corrects GM2 Gangliosidosis in Sandhoff Mice for Long-Term, by Using AAV Viral Vector Expressing a New Hexosaminidase Variant

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High-Throughput PRPF31 Variant Characterisation Pipeline Consistent With ACMG/AMP Clinical Variant Interpretation Guidelines

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