Browsing by Author "Horovitz, Dafne Dain Gandelman"
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Desempenho ocupacional e o uso de tecnologia assistida de baixo custo com crianças e adolescentes com mucopolissacaridose
Jacob, Luana Ramalho | Date Issued: 2018As Mucopolissacaridoses (MPS) são um grupo específico de doenças genéticas hereditárias, progressivas, decorrentes de alterações nos genes que codificam enzimas lisossômicas, responsáveis pelo metabolismo dos glicosaminoglicanos ... -
A doença laríngea, traqueal e brônquica nas mucupolissacaridoses:estudo endoscópico
Mello, Paulo Pires de | Date Issued: 2018As mucopolissacaridoses (MPS) são doenças geneticamente determinadas, originadas da deficiência de enzimas que degradam glicosaminoglicanos (GAG); a não degradação destas substâncias gera o acúmulo das mesmas no tecido ... -
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 -
Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants
Horovitz, Dafne Dain Gandelman et al. | Date Issued: 2023 -
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