Results 21 to 30 of about 5,715,301 (195)
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
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
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
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II [PDF]
Biology of Blood and Marrow Transplantation, 2017 Hiromasa Yabe +2 more
exaly +2 more sources
Mucopolysachharidosis-II: A Rare Case Report
Nepal Journal of Dermatology, Venereology & Leprology, 2020 Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an ...
Kalgi Baxi, Ashish Jagati, Pooja Agarwal
doaj +3 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
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 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
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
Addition of MPS-II to the Recommended Uniform Screening Panel in the United States
International Journal of Neonatal Screening, 2022 It has recently been announced that the Secretary of the U.S. Department of Health and Human Services has approved the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to add mucopolysaccharidosis type II (
David S. Millington, Can Ficicioglu
doaj +1 more source