Cargando…

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome

BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chiong, Mary Anne D., Canson, Daffodil M., Abacan, Mary Ann R., Baluyot, Melissa Mae P., Cordero, Cynthia P., Silao, Catherine Lynn T.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5225557/ https://www.ncbi.nlm.nih.gov/pubmed/28077157 http://dx.doi.org/10.1186/s13023-016-0558-0

Ejemplares similares

A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry
por: Racoma, Marie Julianne C., et al.
Publicado: (2021)

Functional analysis of GALT variants found in classic galactosemia patients using a novel cell‐free translation method
por: Canson, Daffodil M., et al.
Publicado: (2019)

Genetic and clinical characteristics of Filipino patients with Gaucher disease
por: Chiong, Mary Anne D., et al.
Publicado: (2018)

Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's Syndrome)
por: Chinawa, JM, et al.
Publicado: (2012)

Carpal Tunnel Syndrome in the Setting of Mucopolysaccharidosis II (Hunter Syndrome)
por: Argenta, Anne E., et al.
Publicado: (2017)

Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland
por: Żuber, Zbigniew, et al.
Publicado: (2023)

Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey
por: Link, Bianca, et al.
Publicado: (2010)

A rare case of mucopolysaccharidosis: Hunter syndrome
por: Gajula, Prathima, et al.
Publicado: (2012)

The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life
por: Raluy-Callado, Mireia, et al.
Publicado: (2013)

Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report
por: Shah, Gauri Shankar, et al.
Publicado: (2010)

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future
por: Whiteman, David AH, et al.
Publicado: (2017)

Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome—Type II Mucopolysaccharidosis
por: Kim, Hantai, et al.
Publicado: (2021)

Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing
por: Carmona, Suzanne Marie G., et al.
Publicado: (2023)

Identification of 17 novel mutations in 40 Argentinean unrelated families with mucopolysaccharidosis type II (Hunter syndrome)
por: Amartino, H., et al.
Publicado: (2014)

Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome)
por: Suzuki, Kazuchika, et al.
Publicado: (2018)

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
por: Bodamer, Olaf, et al.
Publicado: (2017)

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
por: Semyachkina, A. N., et al.
Publicado: (2019)

Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features
por: Chiong, Mary Anne D., et al.
Publicado: (2016)

Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)
por: Cho, Sung Yoon, et al.
Publicado: (2014)

Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report
por: Rasheeedah, Ibraheem, et al.
Publicado: (2015)

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)
por: Ficicioglu, Can, et al.
Publicado: (2017)

Recovery of Vision following Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II, Hunter Syndrome
por: Yamanishi, Ryutaro, et al.
Publicado: (2019)

Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)
por: Lin, Hsiang-Yu, et al.
Publicado: (2019)

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)
por: Semyachkina, Alla Nikolaevna, et al.
Publicado: (2021)

Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)
por: Sohn, Young Bae, et al.
Publicado: (2013)

Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome)
por: Pano, Arian, et al.
Publicado: (2015)

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
por: Wraith, J. Edmond, et al.
Publicado: (2007)

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
por: Yumul, Rhea Camille R., et al.
Publicado: (2022)

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)
por: Lin, Hsiang-Yu, et al.
Publicado: (2018)

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)

Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey
por: Lau, Heather, et al.
Publicado: (2023)

Awareness and perceptions of Filipino obstetrician-gynecologists on fertility preservation: a cross-sectional survey
por: de Guzman, Glaiza S., et al.
Publicado: (2023)

Radical surgery for primary thyroid lymphoma in a Filipino female: Report of a case and review of literature
por: Perez, Anthony R., et al.
Publicado: (2020)

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes
por: Canson, Daffodil M., et al.
Publicado: (2023)

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)
por: Muenzer, Joseph, et al.
Publicado: (2017)

Antenatal care utilization during the COVID-19 pandemic: an online cross-sectional survey among Filipino women
por: de Guzman, Glaiza S., et al.
Publicado: (2022)

Extensive pemphigus vegetans in a Filipino female
por: Agon, Maicka Keirsten O., et al.
Publicado: (2021)

404. miRNA-Gene Pairs Associated with Shock and Renal Failure in Filipino Septic Patients
por: Deguit, Christian Deo T, et al.
Publicado: (2019)

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)

Dietary diversity and nutritional adequacy among married Filipino immigrant women: The Filipino Women’s Diet and Health Study (FiLWHEL)
por: Abris, Grace P., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_uvvdqnajoeql79iup735g9t51r