Cargando…

Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classical form is known as Hurler syndrome, the intermediat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kubaski, Francyne, de Oliveira Poswar, Fabiano, Michelin-Tirelli, Kristiane, Matte, Ursula da Silveira, Horovitz, Dafne D., Barth, Anneliese Lopes, Baldo, Guilherme, Vairo, Filippo, Giugliani, Roberto
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151028/ https://www.ncbi.nlm.nih.gov/pubmed/32188113 http://dx.doi.org/10.3390/diagnostics10030161

Ejemplares similares

Lysosomal diseases: Overview on current diagnosis and treatment
por: Poswar, Fabiano de Oliveira, et al.
Publicado: (2019)

Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)
por: Poswar, Fabiano de Oliveira, et al.
Publicado: (2022)

Diagnosis of Mucopolysaccharidoses
por: Kubaski, Francyne, et al.
Publicado: (2020)

Precision Medicine for Lysosomal Disorders
por: Pinto e Vairo, Filippo, et al.
Publicado: (2020)

COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
por: Sebastião, Fernanda Medeiros, et al.
Publicado: (2021)

Diagnostic and treatment strategies in mucopolysaccharidosis VI
por: Vairo, Filippo, et al.
Publicado: (2015)

Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I
por: Pasqualim, Gabriela, et al.
Publicado: (2015)

Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
por: Wilke, Matheus Vernet Machado Bressan, et al.
Publicado: (2023)

Bone mineral density in mucopolysaccharidosis IVB
por: Kubaski, Francyne, et al.
Publicado: (2016)

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
por: Horovitz, Dafne Dain Gandelman, et al.
Publicado: (2016)

Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”
por: Poletto, Edina, et al.
Publicado: (2018)

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory
por: Giugliani, Roberto, et al.
Publicado: (2017)

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
por: Borges, Pâmella, et al.
Publicado: (2020)

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
por: Kubaski, Francyne, et al.
Publicado: (2022)

Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
por: Bender, Fernanda, et al.
Publicado: (2020)

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up
por: Barth, Anneliese L., et al.
Publicado: (2017)

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases
por: Poletto, Edina, et al.
Publicado: (2019)

Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial
por: Giugliani, Roberto, et al.
Publicado: (2018)

Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
por: Giugliani, Roberto, et al.
Publicado: (2021)

Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs
por: Simonaro, Calogera M., et al.
Publicado: (2016)

Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
por: Kubaski, Francyne, et al.
Publicado: (2022)

Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy
por: Poswar, Fabiano de Oliveira, et al.
Publicado: (2022)

Need leads to change: Transition to home infusion in Pompe disease in Brazil in the COVID-19 pandemic
por: Horovitz, Dafne Dain Gandelman, et al.
Publicado: (2021)

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing
por: Oliveira Netto, Alice Brinckmann, et al.
Publicado: (2021)

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease
por: Koppe, Tiago, et al.
Publicado: (2016)

Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children()
por: Horovitz, Dafne D.G., et al.
Publicado: (2015)

ELAG – 10 Successful Years
por: Giugliani, Roberto, et al.
Publicado: (2014)

Drug Repositioning Applied to Cardiovascular Disease in Mucopolysaccharidosis
por: Villalba Silva, Gerda Cristal, et al.
Publicado: (2022)

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I
por: Giugliani, Roberto, et al.
Publicado: (2021)

Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter
por: Horovitz, Dafne D.G., et al.
Publicado: (2023)

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
por: Dornelles, Alícia Dorneles, et al.
Publicado: (2014)

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes
por: Politei, Juan, et al.
Publicado: (2021)

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1
por: d'Avila Paskulin, Livia, et al.
Publicado: (2019)

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I
por: Giugliani, Roberto, et al.
Publicado: (2017)

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry
por: D’Aco, Kristin, et al.
Publicado: (2012)

Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study
por: Torres, Danielle de Araujo, et al.
Publicado: (2019)

Laryngeal, Tracheal, and Bronchial Disease in the Mucopolysaccharidoses: Endoscopic Study
por: Pires de Mello, Paulo, et al.
Publicado: (2020)

Respiratory and sleep disorders in mucopolysaccharidosis
por: Berger, Kenneth I., et al.
Publicado: (2012)

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment
por: Giugliani, Roberto, et al.
Publicado: (2010)

In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments
por: Carneiro, Paola, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_g21aqsue34l6ufqa2sj3svhjst