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Publications by J.C. Tutor

Biochemical Characterization of the GM2 Gangliosidosis B1 Variant

Brazilian Journal of Medical and Biological Research

English

Related publications

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

Journal of Medical Genetics

Genetics

1996

English

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

English

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

English

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

Tohoku Journal of Experimental Medicine

English

Retrospective Diagnosis of Feline GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in Japan: Possible Spread of the Mutant Allele in the Japanese Domestic Cat Population

Journal of Veterinary Medical Science

Veterinary

2008

English

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

English

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

Journal of Human Genetics

Genetics

2003

English

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

English

GM1 Gangliosidosis Type 1

2020

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by J.C. Tutor

Biochemical Characterization of the GM2 Gangliosidosis B1 Variant

Related publications

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

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

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

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

Retrospective Diagnosis of Feline GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in Japan: Possible Spread of the Mutant Allele in the Japanese Domestic Cat Population

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

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

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

GM1 Gangliosidosis Type 1