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List of works by Dafne Dain Gandelman Horovitz

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

scientific article published on 29 April 2016

Birth defects and health strategies in Brazil: an overview

scientific article published on 11 July 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 ⬇️

scientific article published on November 1, 2012

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

scientific article published on July 2016

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

scientific article published on 28 February 2013

Erratum to: Genetic services and testing in Brazil ⬇️

scientific article published on July 1, 2013

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

scientific article published on 13 September 2017

Genetic services and testing in Brazil ⬇️

scientific article published on May 5, 2012

Genetics and genomics in Brazil: a promising future

scientific article

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

scientific article published on 13 November 2020

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

scientific article published on 5 December 2009

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

scientific article published on 10 January 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.

scientific article

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

scientific article published on 4 January 2018

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

scientific article published on 13 November 2019

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

scientific article published on 22 March 2011

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

scientific article

Rare diseases and the associative dialogue: resignifications for moral experiences

scientific article published on 26 September 2019

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

scientific article published on 28 October 2020

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

scientific article published in January 2017

Spinal cord compression in young children with type VI mucopolysaccharidosis ⬇️

scientific article published on July 23, 2011

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

scientific article published on 01 May 2010

The phenotypic spectrum of congenital Zika syndrome

scientific article (publication date: 22 March 2017)

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

scientific article published on 5 February 2018

Zika Virus Infection in Pregnant Women in Rio de Janeiro — Preliminary Report

scientific article

[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]

scientific article published on 09 September 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)]

scientific article published on 01 February 2014

[Treatment networks and associations of patients with rare diseases]

scientific article published on 01 October 2018

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