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Publications by M C Sa Miranda

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

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Biochemical Characterization of the GM2 Gangliosidosis B1 Variant

Brazilian Journal of Medical and Biological Research

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

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

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

Tohoku Journal of Experimental Medicine

English

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

English

Eosinophilic Esophagitis in Portuguese Children: Clinical and Allergological Characterisation

Clinical and Translational Allergy

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

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

2020

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by M C Sa Miranda

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

Related publications

Biochemical Characterization of the 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

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

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

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

Eosinophilic Esophagitis in Portuguese Children: Clinical and Allergological Characterisation

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

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