Cargando…

Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report

Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked recessive lysosomal storage disease caused by a mutation in the IDS gene and characterized by systemic accumulations of glycosaminoglycans. Its somatic symptoms can be relieved by enzyme replacement therapy (ERT) with idursulfase...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tomita, Kazuyoshi, Okamoto, Shungo, Seto, Toshiyuki, Hamazaki, Takashi, So, Sairei, Yamamoto, Tatsuyoshi, Tanizawa, Kazunori, Sonoda, Hiroyuki, Sato, Yuji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Inc. 2021
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8574176/ https://www.ncbi.nlm.nih.gov/pubmed/34765392 http://dx.doi.org/10.1002/jmd2.12239

Ejemplares similares

Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study
por: Tomita, Kazuyoshi, et al.
Publicado: (2021)

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)

Treatment of Neuronopathic Mucopolysaccharidoses with Blood–Brain Barrier-Crossing Enzymes: Clinical Application of Receptor-Mediated Transcytosis
por: Sonoda, Hiroyuki, et al.
Publicado: (2022)

Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil
por: Giugliani, Roberto, et al.
Publicado: (2021)

Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial
por: Okuyama, Torayuki, et al.
Publicado: (2019)

A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II
por: Okuyama, Torayuki, et al.
Publicado: (2021)

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

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

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

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)

Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice
por: Maeda, Mitsuyo, et al.
Publicado: (2019)

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)

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
por: Chiong, Mary Anne D., et al.
Publicado: (2017)

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)

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)

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)

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

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)

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)

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)

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)

Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
por: Ficicioglu, Can, et al.
Publicado: (2020)

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)

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)

Juvenile Bow Hunter’s Stroke without Hemodynamic Changes
por: Saito, Kozue, et al.
Publicado: (2010)

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

Sibling Influences on Trajectories of Maladaptive Behaviors in Autism
por: Rosen, Nicole E., et al.
Publicado: (2022)

Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
por: Grant, Nathan, et al.
Publicado: (2022)

Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings
por: Barak, Sharon, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_aftnaua4mo1kklhhuc6ge2gbdv