Mara F. Santos

Curitiba PR
Curitiba, PR, Brazil

Last Updated: 09/26/2026

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Found 25 publications

Colony-stimulating factor 1 receptor-related disorder: Clinical variability of biallelic variants.

Colony-stimulating factor 1 receptor-related disorder: Clinical variability of biallelic variants.

Journal: Developmental medicine and child neurology

Published: July 01, 2026

Expanding beyond the exome: identifying pediatric patients best suited for genome sequencing.

Expanding beyond the exome: identifying pediatric patients best suited for genome sequencing.

Journal: Journal of community genetics

Published: July 04, 2025

Performance of cryptogenic new onset refractory status epilepticus score in a Brazilian cohort after testing for antineuronal antibodies with tissue-based and cell-based assays.

Performance of cryptogenic new onset refractory status epilepticus score in a Brazilian cohort after testing for antineuronal antibodies with tissue-based and cell-based assays.

Journal: Epilepsia

Published: September 13, 2024

Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021.

Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021.

Journal: Epidemiologia e servicos de saude : revista do Sistema Unico de Saude do Brasil

Published: August 12, 2024

Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.

Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.

Journal: Neuropediatrics

Published: June 10, 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

Neurodevelopmental disorder associated with gene ARF3: A case report.

Neurodevelopmental disorder associated with gene ARF3: A case report.

Journal: American journal of medical genetics. Part A

Published: February 07, 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

Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies.

Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies.

Journal: Frontiers in public health

Published: October 17, 2023

Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants.

Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants.

Journal: Arquivos de neuro-psiquiatria

Published: October 04, 2023

Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America.

Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America.

Journal: Pediatric neurology

Published: November 29, 2022

Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil.

Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil.

Journal: Frontiers in neurology

Published: June 13, 2022

Showing 1-12 of 25

Last Updated: 09/26/2026