Lista de obras -

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

artículo científico publicado en 2017

A Case of Early Infantile Pompe Disease with Atypical Manifestation

Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients

artículo científico publicado en 2020

Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases

artículo científico publicado en 2015

Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease

artículo científico publicado en 2014

Breastfeeding in Gaucher Disease: Is Enzyme Replacement Therapy Safe?

artículo científico publicado en 2014

Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?

Broad clinical and laboratory spectrum found in 9 Niemann–Pick disease type C Southern Brazilian patients

artículo científico publicado en 2015

Clinical and functional consequences of C-terminal variants in MCT8: a case series

scientific article published on 03 November 2020

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

artículo científico publicado en 2018

Correlation between brain MR spectroscopy and BMB score in type 1 Gaucher disease: Is there any?

Could enzyme replacement therapy promote immune tolerance in Gaucher disease type 1?

artículo científico publicado en 2016

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

artículo científico publicado en 2019

Diagnosing communicating hydrocephalus in mucopolysaccharidoses: Correlation between cerebrospinal fluid flow imaging and lumbar pressure studies

scholarly article by Carolina Fischinger Moura de Souza published in February 2015

Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

artículo científico publicado en 2015

Does enzyme replacement therapy enhance brain-derived neurotrophic factor expression in Gaucher disease?

artículo científico publicado en 2015

Emerging drugs for the treatment of mucopolysaccharidoses.

artículo científico publicado en 2016

Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment

scientific article published on 21 February 2013

Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis

artículo científico publicado en 2012

Enzyme replacement therapy in a patient with type III Gaucher disease: Report of a paradigmatic case

Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

artículo científico publicado en 2015

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

scientific article published on 18 November 2020

Gastrointestinal disorders and miglustat therapy: A case report

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency

artículo científico publicado en 2019

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

artículo científico publicado en 2012

Human leukocyte antigens and Gaucher disease

artículo científico publicado en 2012

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

scientific article published on 01 July 2019

Hyperimmunoglobulinemia in pediatric Gaucher patients in Southern Brazil

article

Inflammasome during pregnancy in a Gaucher disease patient

KIR genes and HLA class I ligands in Gaucher disease

artículo científico

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

artículo científico publicado en 2019

Lysosomal diseases: Overview on current diagnosis and treatment

artículo científico publicado en 2019

Maple syrup urine disease: mechanisms and management

artículo científico publicado en 2017

MicroRNA and gene expression studies provide novel information to understand heart disease in women with Fabry disease

article

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

artículo científico publicado en 2017

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

artículo científico publicado en 2017

Mucopolysaccharidosis Type I

artículo científico publicado en 2020

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know

artículo científico publicado en 2016

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS

artículo científico publicado en 2017

Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

artículo científico publicado en 2018

Osteopontin: a potential biomarker of Gaucher disease

scientific article published on 01 April 2015

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

artículo científico publicado en 2019

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

artículo científico publicado en 2017

Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing

artículo científico publicado en 2016

Precision Medicine for Lysosomal Disorders

artículo científico publicado en 2020

Proteasome inhibitor as an adjuvant treatment for Gaucher disease?

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).

artículo científico publicado en 2015

Screening of high-risk Gaucher disease patients using dried blood spots techniques

artículo científico publicado en 2013

Serum β2-microglobulin is frequently elevated in type 1 Gaucher patients

artículo científico publicado en 2014

Taliglucerase alfa to type 1 Gaucher disease: A south Brazilian experience

The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent

artículo científico publicado en 2015

The basis of inborn errors of metabolism for neuroradiologists

artículo científico publicado en 2011

The challenges of organizing an international course in Latin America

artículo científico publicado en 2014

The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease

article

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

artículo científico publicado en 2016

Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease)

artículo científico publicado en 2020

Lista de obras de

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

A Case of Early Infantile Pompe Disease with Atypical Manifestation

Aetiology and outcomes of secondary myelofibrosis occurring in the context of inherited platelet disorders: A single institutional study of four patients

Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases

Brain-derived neurotrophic factor expression increases after enzyme replacement therapy in Gaucher disease

Breastfeeding in Gaucher Disease: Is Enzyme Replacement Therapy Safe?

Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?

Broad clinical and laboratory spectrum found in 9 Niemann–Pick disease type C Southern Brazilian patients

Clinical and functional consequences of C-terminal variants in MCT8: a case series

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

Correlation between brain MR spectroscopy and BMB score in type 1 Gaucher disease: Is there any?

Could enzyme replacement therapy promote immune tolerance in Gaucher disease type 1?

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Diagnosing communicating hydrocephalus in mucopolysaccharidoses: Correlation between cerebrospinal fluid flow imaging and lumbar pressure studies

Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome)

Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Does enzyme replacement therapy enhance brain-derived neurotrophic factor expression in Gaucher disease?

Emerging drugs for the treatment of mucopolysaccharidoses.

Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment

Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis

Enzyme replacement therapy in a patient with type III Gaucher disease: Report of a paradigmatic case

Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

Gastrointestinal disorders and miglustat therapy: A case report

Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis

Human leukocyte antigens and Gaucher disease

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

Hyperimmunoglobulinemia in pediatric Gaucher patients in Southern Brazil

Inflammasome during pregnancy in a Gaucher disease patient

KIR genes and HLA class I ligands in Gaucher disease

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

Lysosomal diseases: Overview on current diagnosis and treatment

Maple syrup urine disease: mechanisms and management

MicroRNA and gene expression studies provide novel information to understand heart disease in women with Fabry disease

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

Mucopolysaccharidosis Type I

Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know

Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS

Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia

Osteopontin: a potential biomarker of Gaucher disease

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing

Precision Medicine for Lysosomal Disorders

Proteasome inhibitor as an adjuvant treatment for Gaucher disease?

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC).

Screening of high-risk Gaucher disease patients using dried blood spots techniques

Serum β2-microglobulin is frequently elevated in type 1 Gaucher patients

Taliglucerase alfa to type 1 Gaucher disease: A south Brazilian experience

The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent

The basis of inborn errors of metabolism for neuroradiologists

The challenges of organizing an international course in Latin America

The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease)