Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II
Journal of Pediatric Emergency and Intensive Care Medicine, 2019 Mucopolysaccharidosis type II (MPS II) is a rare, X-linked recessive disease characterized by deficiency of lysosomal iduronate-2-sulfatase. Progressive upper airway obstruction is common in patients with MPS II.
Damla Hanalioğlu +4 more
doaj +2 more sources
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) [PDF]
Molecular Genetics and Metabolism Reports, 2017 There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter ...
Olaf Bodamer +4 more
doaj +2 more sources
Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II
Journal of Inborn Errors of Metabolism and Screening, 2018 Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement therapy does not cross the blood–brain barrier (BBB), limiting the results in neurological ...
Anneliese L. Barth MD, PhD +1 more
doaj +2 more sources
Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II. [PDF]
Br J Clin PharmacolAbstract Aims Enzyme replacement therapy (ERT) for mucopolysaccharidosis II (MPS II) requires long‐term, weekly intravenous infusions often lasting over 3 h each time, which can burden paediatric patients and caregivers and negatively affect their quality of life and treatment compliance.
Nakamura K +6 more
europepmc +2 more sources
Completa recuperação pós-covid-19 grave em paciente com mucopolissacaridose tipo 2
Residência Pediátrica, 2023 INTRODUCTION: Children with comorbidities are at greater risk of developing severe forms of Covid-19. This paper reports a case of Mucopolysaccharidosis Type 2 (MPS-II) that presented complete recovery after severe Covid-19.
Yasmine Gorczevski Pigosso +4 more
doaj +1 more source
Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study [PDF]
, 2023 Corrigendum to: Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized ...
Jones, Simon A. +14 more
core +1 more source
A Rare Case of Mucopolysaccharidosis: Hunter Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2015 Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs).
Jayaprasad Anekar +4 more
doaj +1 more source
International Journal of Neonatal Screening, 2023 The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS).
Sikha Singh +4 more
doaj +1 more source
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
Frontiers in Genetics, 2020 RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes +7 more
doaj +1 more source
The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II. [PDF]
PLoS ONE, 2014 Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase.
Zbigniew Żuber +3 more
doaj +1 more source