Publications by authors named "Maria-Veronica Munoz-Rojas"

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Survival of patients with chronic acid sphingomyelinase deficiency (ASMD) in the United States: A retrospective chart review study.
Ruth Pulikottil-Jacob, Sumudu Dehipawala, Brittany Smith, Amod Athavale, Gaelle Gusto, Maria Veronica Munoz-Rojas

Mol Genet Metab Rep· March 2024

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Importance of Disease Recognition and Proper Disease Nomenclature for Patients With Acid Sphingomyelinase Deficiency (Historically Known as Niemann-Pick Types A or B) With a Disease-Specific Treatment on the Horizon.
Manuel Ribes, Maria-Veronica Muñoz-Rojas

Clin Pediatr (Phila)· December 2021

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Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.
Simon A Jones, Margaret McGovern, Olivier Lidove, Roberto Giugliani, Pramod K Mistry, Maria-Veronica Munoz-Rojas

Mol Genet Metab· June 2021

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Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.
Ana Maria Martins, Kristin Lindstrom, Sandra Obikawa Kyosen, Maria Veronica Munoz-Rojas, Nathan Thibault

BMC Endocr Disord· November 2018

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Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.
Roberto Giugliani, Taiane Alves Vieira, Clarissa Gutierrez Carvalho, Maria-Veronica Muñoz-Rojas, Alla N Semyachkina

Mol Genet Metab Rep· March 2017

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Novel GAA mutations in patients with Pompe disease.
Lauro Thiago Turaça, Douglas Oliveira Soares de Faria, Sandra Obikawa Kyosen, Valber Dias Teixeira, Fabiana Louise Motta

Gene· April 2015

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Inclusion of medical genetics in primary health care: report of a pilot project in Brazil.
Taiane Alves Vieira, Camila Giugliani, Larissa Pozzebon da Silva, Lavínia Schuler Faccini, Júlio César Loguercio Leite

J Community Genet· January 2013

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New mutations in the GLA gene in Brazilian families with Fabry disease.
Lauro Thiago Turaça, Juliana Gilbert Pessoa, Fabiana Louise Motta, Maria Verônica Muñoz Rojas, Karen Barbosa Müller

J Hum Genet· June 2012

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Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
Minke H de Ru, Quirine Ga Teunissen, Johanna H van der Lee, Michael Beck, Olaf A Bodamer

Orphanet J Rare Dis· April 2012

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The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus.
Joseph Muenzer, Olaf Bodamer, Barbara Burton, Lorne Clarke, Gudrun Schulze Frenking

Eur J Pediatr· January 2012

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Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world.
María Verónica Muñoz-Rojas, Luisa Bay, Luz Sanchez, Marcel van Kuijck, Sandra Ospina

J Inherit Metab Dis· October 2011

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[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts].
Roberto Giugliani, Andressa Federhen, Maria Verónica Muñoz Rojas, Taiane Alves Vieira, Osvaldo Artigalás

Rev Assoc Med Bras (1992)· August 2011

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ACE activity is modulated by the enzyme α-galactosidase A.
Elice Carneiro Batista, Luiz Roberto Carvalho, Dulce Elena Casarini, Adriana Karaoglanovic Carmona, Edson Lucas dos Santos

J Mol Med (Berl)· January 2011

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Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.
Roberto Giugliani, Andressa Federhen, Maria Verônica Muñoz Rojas, Taiane Vieira, Osvaldo Artigalás

Genet Mol Biol· October 2010

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Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis.
María Verónica Muñoz-Rojas, Dafne Dain Gandelman Horovitz, Laura Bannach Jardim, Marcia Raymundo, Juan Clinton Llerena

Mol Genet Metab· April 2010

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Guidelines for the management of mucopolysaccharidosis type I.
Ana Maria Martins, Ana Paula Dualibi, Denise Norato, Edna Tiemi Takata, Emerson S Santos

J Pediatr· October 2009

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The Brazilian consensus on the management of Pompe disease.
Juan C Llerena, Dafne Maria Horovitz, Suely Kazue Nagahashi Marie, Gilda Porta, Roberto Giugliani

J Pediatr· October 2009

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Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression.
Maria-Veronica Munoz-Rojas, Taiane Vieira, Ronaldo Costa, Simone Fagondes, Angela John

Am J Med Genet A· October 2008

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[Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling].
María Verónica Muñoz Rojas, Leila Maria Cardão Chimelli, Aguinaldo Luiz Simões

Arq Bras Oftalmol· February 2006

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Grebe-Quelce-Salgado chondrodystrophy: prenatal diagnosis of two new cases in unrelated families in Southern Brazil.
María Verónica Muñoz Rojas, Luís Flávio Gonçalves

Am J Med Genet· November 2002

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