Lista de obras -

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.

artículo científico publicado en 2016

Birth defects and health strategies in Brazil: an overview

artículo científico publicado en 2005

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

scientific article published on 24 September 2019

Conceptions on genetics in a group of college students

artículo científico publicado en 2012

Cranial bone collapse in microcephalic infants prenatally exposed to Zika virus infection

artículo científico publicado en 2016

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

artículo científico publicado en 2013

Erratum to: Genetic services and testing in Brazil ⬇️

artículo científico publicado el 1 de julio de 2013

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

artículo científico publicado en 2017

Genetic services and testing in Brazil ⬇️

artículo científico publicado el 5 de mayo de 2012

Genetics and genomics in Brazil: a promising future

artículo científico publicado en 2014

Identification of relevant International Classification of Functioning Disability and Health (ICF) categories in patients with 22q11.2 Deletion Syndrome: a Delphi exercise

artículo científico publicado en 2020

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.

artículo científico publicado en 2009

Laryngeal, Tracheal, and Bronchial Disease in the Mucopolysaccharidoses: Endoscopic Study

artículo científico publicado en 2020

Medical genetic services in the state of Rio de Janeiro, Brazil

scientific article published on 01 January 2004

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

artículo científico publicado en 2010

Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report

artículo científico publicado en 2018

Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study

artículo científico publicado en 2019

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.

artículo científico publicado en 2011

Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015

artículo científico publicado en 2016

Rare diseases and the associative dialogue: resignifications for moral experiences

artículo científico publicado en 2019

Reinfection of COVID-19 after 3 months with a distinct and more aggressive clinical presentation: case report

artículo científico publicado en 2020

Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.

artículo científico publicado en 2017

Spinal cord compression in young children with type VI mucopolysaccharidosis ⬇️

artículo científico publicado el 23 de julio de 2011

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros ⬇️

artículo científico publicado el 1 de mayo de 2010

The phenotypic spectrum of congenital Zika syndrome

artículo científico publicado en 2017

When rarity is an asset: political activism for the rights of persons with rare diseases in the Brazilian Unified National Health System.

artículo científico publicado en 2018

[Birth defects in Brazil and health care: proposals for public policies in clinical genetics]

scientific article published on 01 December 2006

[Complex care, high cost, and loss of income: frequent issues for families of children and adolescents with rare health conditions]

artículo científico publicado en 2019

[Contradictions of public health policies geared to rare disorders: the example of the Osteogenesis Imperfecta Treatment Program in the Brazilian Unified Health System (SUS)]

artículo científico publicado en 2014

[Treatment networks and associations of patients with rare diseases]

artículo científico publicado en 2018

Infección por el virus del Zika en mujeres embarazadas en Río de Janeiro - Informe preliminar (Zika Virus Infection in Pregnant Women in Rio de Janeiro — Preliminary Report)

artículo científico publicado en 2016

Lista de obras de

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.

Birth defects and health strategies in Brazil: an overview

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

Conceptions on genetics in a group of college students

Cranial bone collapse in microcephalic infants prenatally exposed to Zika virus infection

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

Erratum to: Genetic services and testing in Brazil ⬇️

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

Genetic services and testing in Brazil ⬇️

Genetics and genomics in Brazil: a promising future

Identification of relevant International Classification of Functioning Disability and Health (ICF) categories in patients with 22q11.2 Deletion Syndrome: a Delphi exercise

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.

Laryngeal, Tracheal, and Bronchial Disease in the Mucopolysaccharidoses: Endoscopic Study

Medical genetic services in the state of Rio de Janeiro, Brazil

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report

Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study

Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI.

Possible Association Between Zika Virus Infection and Microcephaly — Brazil, 2015

Rare diseases and the associative dialogue: resignifications for moral experiences

Reinfection of COVID-19 after 3 months with a distinct and more aggressive clinical presentation: case report

Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.

Spinal cord compression in young children with type VI mucopolysaccharidosis ⬇️

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros ⬇️

The phenotypic spectrum of congenital Zika syndrome

When rarity is an asset: political activism for the rights of persons with rare diseases in the Brazilian Unified National Health System.

[Birth defects in Brazil and health care: proposals for public policies in clinical genetics]

[Complex care, high cost, and loss of income: frequent issues for families of children and adolescents with rare health conditions]

[Contradictions of public health policies geared to rare disorders: the example of the Osteogenesis Imperfecta Treatment Program in the Brazilian Unified Health System (SUS)]

[Treatment networks and associations of patients with rare diseases]

Infección por el virus del Zika en mujeres embarazadas en Río de Janeiro - Informe preliminar (Zika Virus Infection in Pregnant Women in Rio de Janeiro — Preliminary Report)