Cargando…

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

Our objective was to assess how the diagnosis and treatment of mucopolysaccharidosis I (MPS I) have changed over time. We used data from 891 patients in the MPS I Registry, an international observational database, to analyze ages at symptom onset, diagnosis, treatment initiation, and treatment alloc...

Descripción completa

Detalles Bibliográficos
Autores principales:	D’Aco, Kristin, Underhill, Lisa, Rangachari, Lakshmi, Arn, Pamela, Cox, Gerald F., Giugliani, Roberto, Okuyama, Torayuki, Wijburg, Frits, Kaplan, Paige
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer-Verlag 2012
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3357468/ https://www.ncbi.nlm.nih.gov/pubmed/22234477 http://dx.doi.org/10.1007/s00431-011-1644-x

Ejemplares similares

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
por: Clarke, Lorne A., et al.
Publicado: (2019)

The natural history of MPS I: global perspectives from the MPS I Registry
por: Beck, Michael, et al.
Publicado: (2014)

Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry
por: Polgreen, Lynda E., et al.
Publicado: (2022)

Sexual behaviour in a murine model of mucopolysaccharidosis type I (MPS I)
por: Barbosa Mendes, Ana, et al.
Publicado: (2019)

Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I
por: Arn, Pamela, et al.
Publicado: (2015)

Mucopolysaccharidosis Type I
por: Kubaski, Francyne, et al.
Publicado: (2020)

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

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

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry
por: Viskochil, David, et al.
Publicado: (2019)

Immunological evaluation of patients with mucopolysaccharidosis (MPS)
por: Aranda, Carolina, et al.
Publicado: (2015)

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
por: Kingma, Sandra DK, et al.
Publicado: (2013)

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications
por: Kuiper, Gé-Ann, et al.
Publicado: (2018)

Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI
por: Brands, Marion M. M. G., et al.
Publicado: (2012)

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

Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I
por: Thomas, Janet A., et al.
Publicado: (2010)

Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities
por: Baronio, Federico, et al.
Publicado: (2022)

Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases
por: Saito, Seiji, et al.
Publicado: (2016)

Impact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II
por: Seo, Joo-Hyun, et al.
Publicado: (2021)

Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up
por: Furujo, Mahoko, et al.
Publicado: (2017)

Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study
por: Węgrzyn, Grzegorz, et al.
Publicado: (2005)

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
por: Valstar, Marlies J, et al.
Publicado: (2011)

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
por: de Ru, Minke H, et al.
Publicado: (2012)

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay
por: Jahic, Amir, et al.
Publicado: (2019)

Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment
por: Tylki‐Szymańska, Anna, et al.
Publicado: (2018)

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA
por: Knottnerus, Suzan J. G., et al.
Publicado: (2017)

Differences in MPS I and MPS II Disease Manifestations
por: Hampe, Christiane S., et al.
Publicado: (2021)

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
por: Mashima, Ryuichi, et al.
Publicado: (2023)

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure
por: Kuiper, Gé-Ann, et al.
Publicado: (2019)

The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry
por: Mashima, Ryuichi, et al.
Publicado: (2016)

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

Natural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course
por: Seo, Joo-Hyun, et al.
Publicado: (2020)

Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data
por: Giugliani, Roberto, et al.
Publicado: (2021)

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome
por: Pal, Abhijit Ricky, et al.
Publicado: (2015)

Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening
por: Nijmeijer, Stephanie C. M., et al.
Publicado: (2020)

Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond
por: Toscano, Antonio, et al.
Publicado: (2023)

Parents’ experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS)
por: Somanadhan, S., et al.
Publicado: (2016)

Mucopolysaccharidosis (MPS): Review of the literature and case series of five pediatric dental patients
por: Hirst, Lorna, et al.
Publicado: (2021)

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II
por: Yamazaki, Narutoshi, et al.
Publicado: (2023)

Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS)
por: Muenzer, Joseph, et al.
Publicado: (2021)

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder
por: Wijburg, Frits A, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_uh06157r203461vk2265ic5ba5