Cargando…

Increased ocular wall thickness and decreased globe volume in children with mucopolysaccharidosis type VI

PURPOSE: Although clinical ophthalmologic findings have been reported, no study documented magnetic resonance imaging (MRI) findings in mucopolysaccharidosis (MPS) type VI. The aim of this study was to determine the ophthalmologic imaging findings of MPS type VI in the pediatric age group retrospect...

Descripción completa

Detalles Bibliográficos
Autores principales:	Yavuz, Ozlem Ozkale, Ayaz, Ercan, Yıldız, Yılmaz, Karaosmanoglu, Ayca Akgoz, Bulut, Elif, Sivri, H. Serap Kalkanoglu, Oguz, Kader K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Turkish Society of Radiology 2022
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9682595/ https://www.ncbi.nlm.nih.gov/pubmed/36218154 http://dx.doi.org/10.5152/dir.2022.21372

Ejemplares similares

Trigeminal nerve and pathologies in magnetic resonance imaging – a pictorial review
por: Gunes, Altan, et al.
Publicado: (2018)

Mucopolysaccharidosis VI
por: Valayannopoulos, Vassili, et al.
Publicado: (2010)

Acute Pancreatitis and Acute Recurrent Pancreatitis in Children: Imaging Findings and Outcomes
por: Ayaz, Ercan, et al.
Publicado: (2023)

Visual impairment in mucopolysaccharidosis VI
por: Magalhães, Augusto Monteiro, et al.
Publicado: (2023)

Flocculus Herniation into the Internal Acoustic Canal in Incomplete Partition Type I: A Case Report
por: Parlak, Şafak, et al.
Publicado: (2023)

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

Difficulties Associated with Enzyme Replacement Therapy for Mucopolysaccharidoses
por: Yıldız, Yılmaz, et al.
Publicado: (2021)

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI
por: Harmatz, Paul R., et al.
Publicado: (2013)

Vertebral Tongue-Like Deformity in Mucopolysaccharidosis VI
por: Landen, Michiel, et al.
Publicado: (2021)

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
por: Voskoboeva, Elena, et al.
Publicado: (2022)

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease
por: D’Avanzo, Francesca, et al.
Publicado: (2021)

Mucopolysaccharidosis Type VI with Recurrent Chest Infection
por: Numan, Ashraf, et al.
Publicado: (2023)

Mucopolysaccharidosis VI in cats – clarification regarding genetic testing
por: Lyons, Leslie A., et al.
Publicado: (2016)

Ocular features in mucopolysaccharidosis: diagnosis and treatment
por: Del Longo, Alessandra, et al.
Publicado: (2018)

Oral health status of children and young adults with maple syrup urine disease in Turkey
por: Ballikaya, Elif, et al.
Publicado: (2021)

COVID-19 in inherited metabolic disorders: Clinical features and risk factors for disease severity
por: Kahraman, Ayca Burcu, et al.
Publicado: (2023)

Imaging findings of gastrointestinal tract tumors in children and adolescents
por: Özcan, H. Nursun, et al.
Publicado: (2022)

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

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
por: Brands, Marion M, et al.
Publicado: (2013)

Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
por: Karir, Aneesh, et al.
Publicado: (2018)

Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics
por: Tebani, Abdellah, et al.
Publicado: (2019)

Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates for a Gene Therapy Trial
por: Ferla, Rita, et al.
Publicado: (2015)

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene
por: Tomanin, Rosella, et al.
Publicado: (2018)

Bilateral Traumatic Globe Luxation with Optic Nerve Transection
por: Tok, Levent, et al.
Publicado: (2014)

A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis
por: Zapała, Barbara, et al.
Publicado: (2020)

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia
por: Pachajoa, Harry, et al.
Publicado: (2014)

Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux–Lamy syndrome)
por: Giraldo, Gustavo Adolfo, et al.
Publicado: (2015)

Respiratory Dysfunction in Children and Adolescents with Mucopolysaccharidosis Types I, II, IVA, and VI
por: Tulebayeva, Assel, et al.
Publicado: (2020)

Oxygen Saturation in Closed-Globe Blunt Ocular Trauma
por: Long, Chongde, et al.
Publicado: (2016)

Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations
por: Bansal, Abhishek, et al.
Publicado: (2012)

Ethical and economic considerations of rare diseases in ethnic minorities: the case of mucopolysaccharidosis VI in Colombia
por: Rosselli, Diego, et al.
Publicado: (2013)

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI
por: Uttarilli, Anusha, et al.
Publicado: (2015)

Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI)
por: Saccone, Paola, et al.
Publicado: (2014)

Haploidentical stem cell transplantation in two children with mucopolysaccharidosis VI: clinical and biochemical outcome
por: Jester, Sandra, et al.
Publicado: (2013)

Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model—An Experimental and Computational Approach
por: Guevara-Morales, Johana M., et al.
Publicado: (2020)

Case report: Ocular malformation with a ‘double globe’ appearance
por: Kim, Usha R, et al.
Publicado: (2009)

Open globe injury with an interesting intra-ocular foreign body
por: Gill, Ekjyot, et al.
Publicado: (2017)

Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential
por: Gomes, Bruno Duarte, et al.
Publicado: (2012)

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme(®)) therapy
por: Braunlin, E., et al.
Publicado: (2012)

Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI
por: Bartolomeo, Rosa, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_dsgcapeshnh2q8mnq28and9q01