Browsing by Author "Horovitz, Dafne Dain Gandelman"
Now showing items 21-40 of 47
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Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
Dornelles, Alícia Dorneles et al. | Date Issued: 2014 -
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
Horovitz, Dafne Dain Gandelman et al. | Date Issued: 2013 -
Estudos das lesões de vias medulares através dos potenciais evocados somatossensitivos (PESS) e motores (PEM) em pacientes com mucopolissacaridoses (MPS)
Silva, Daniel de Souza e | Date Issued: 2013As mucopolisacaridoses (MPS) são doenças geneticamente determinadas, causadas pela deficiência de enzimas lisossômicas, o que leva ao acúmulo de glicosaminoglicanos (GAGs) universalmente. As mielopatias cervicais ao nível ... -
Functional characterization of novel mutations inGNPAT andAGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3
Itzkovitz, Brandon et al. | Date Issued: 2012 -
Further report of a patient with humeroradioulnar synostosis and hydronephrosis
Boy, Raquel et al. | Date Issued: 2013 -
Genetic services and testing in Brazil
Horovitz, Dafne Dain Gandelman et al. | Date Issued: 2013 -
Genotypic and phenotypic analysis of 396 individuals with mutations in sonic hedgehog
Solomon, Benjamin D. et al. | Date Issued: 2012 -
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis
Rojas, Maria Verónica Muñoz et al. | Date Issued: 2010 -
Investigação do retardo mental e doenças genéticas a partir de um estudo transversal em escolas do Estado do Rio de Janeiro
Llerena Junior, Juan Clinton et al. | Date Issued: 2000De 1994 a 1997, uma equipe médica itinerante em visita a escolas de educação especial no Estado do Rio de Janeiro iniciou uma investigação genética em alunos com retardo mental (RM) com o objetivo de identificar fatores ... -
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome
Huber, Céline et al. | Date Issued: 2009 -
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study
Horovitz, Dafne Dain Gandelman et al. | Date Issued: 2021 -
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment
Giugliani, Roberto et al. | Date Issued: 2010 -
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients
Brusius-Facchin, A. C. et al. | Date Issued: 2014 -
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI
Solanki, Guirish A. et al. | Date Issued: 2012 -
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia
Gomes, Maria E. S. et al. | Date Issued: 2018 -
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Acuna-Hidalgo, Rocio et al. | Date Issued: 2017 -
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI
Baldo, Guilherme et al. | Date Issued: 2011 -
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations
Oba-Shinjo, Sueli M. et al. | Date Issued: 2009 -
Reinfection of COVID-19 after 3 months with a distinct and more aggressive clinical presentation: case report
Ribeiro, Luciana do Carmo Bueno et al. | Date Issued: 2020 -
SARS-CoV-2 pandemic in the Brazilian community of rare diseases: a patient reported survey
Schwartz, Ida Vanessa Doederlein et al. | Date Issued: 2021