Ana M. Martins

Sao Paulo, SP 04021001, Brazil

Last Updated: 09/26/2026

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Found 79 publications

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.

Journal: Journal of clinical medicine

Published: September 26, 2025

Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis.

Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis.

Journal: Molecular genetics and metabolism reports

Published: January 31, 2025

Screening for Lysosomal Acid Lipase Deficiency in a Lipid Clinic.

Screening for Lysosomal Acid Lipase Deficiency in a Lipid Clinic.

Journal: Arquivos brasileiros de cardiologia

Published: December 10, 2024

Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards.

Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards.

Journal: Molecular genetics and metabolism reports

Published: November 18, 2024

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.

Journal: Orphanet journal of rare diseases

Published: June 20, 2024

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement.

Journal: Orphanet journal of rare diseases

Published: May 08, 2024

Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.

Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.

Journal: Molecular genetics and metabolism

Published: May 02, 2024

A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta.

A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta.

Journal: Orphanet journal of rare diseases

Published: February 28, 2024

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.

Journal: Orphanet journal of rare diseases

Published: November 25, 2023

α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial.

α-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: October 10, 2023

Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.

Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil.

Journal: Arquivos de neuro-psiquiatria

Published: June 19, 2023

Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.

Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.

Journal: Molecular genetics and metabolism

Published: February 17, 2023

Showing 1-12 of 79

Last Updated: 09/26/2026