Results 91 to 100 of about 854 (165)

Ophthalmic findings in a Hunter Syndrome patient on Idursulfase enzyme replacement therapy

, 2017
Hunter Syndrome (mucopolysaccharidosis type II) is a rare x-linked recessive enzymatic deficiency characterized by deposition of glycosaminoglycans (GAGs) in a multitude of organs. In the eye, this deposition can lead to optic nerve edema, uveal effusion,
Jarstad Allison; Austin Meeker; Melissa Ko
core  

Successful Idursulfase Desensitization Experience in a Pediatric Patient

Asthma Allergy Immunology, 2022
Zeynep ŞENGÜL EMEKSIZ, Şule BÜYÜK YAYTOKGIL, Ilknur KÜLHAŞ ÇELIK, Çiğdem KASAPKARA, Emine DIBEK MISIRLIOĞLU   +4 more
openaire   +1 more source

Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes. [PDF]

Int J Neonatal Screen
Gaviglio A, Bonhomme N, Burton B, Ellinwood NM, Muenzer J, Stephens K, Pathak R, Schaeffer-Koziol C.   +7 more
europepmc   +1 more source

Combined Intracerebroventricular Enzyme Replacement and Cord Blood Transplantation in Patients with Mucopolysaccharidosis Type II Diagnosed Through Newborn Screening. [PDF]

Int J Neonatal Screen
Ueda Y, Hirabayashi S, Miura M, Yamada S, Nakakubo S, Nakajima M, Goto T, Abe J, Terashita Y, Manabe A, Okuyama T, Egawa K.   +11 more
europepmc   +1 more source

Early Recognition of Patients with Neuronopathic Forms of Mucopolysaccharidosis Type II in Clinical Practice. [PDF]

Med Sci (Basel)
Buchinskaia NV, Zakharova EY, Vechkasova AO, Chikova IA, Vashakmadze ND, Namazova-Baranova LS, Ivanov DO, Kutsev SI, Kostik MM.   +8 more
europepmc   +1 more source

Russian doctors have mastered intracerebroventricular administration of idursulfase beta

Педиатрическая фармакология
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article Editorial
doaj  

Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. [PDF]

Orphanet J Rare Dis, 2023
Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutiérrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA.   +9 more
europepmc   +1 more source

Guidelines for home-based enzyme replacement therapy in children and adolescents with mucopolysaccharidosis: a scoping review. [PDF]

Rev Esc Enferm USP
Oliveira VR, Xavier BLQ, Felipe CVS, Alencar IGM, Silva HLLD, Souza FMLC, Oliveira JSA.   +6 more
europepmc   +1 more source

Impact of Mucopolysaccharidosis Type II in Young Children from the Caregiver's Perspective: A Qualitative Study. [PDF]

Adv Ther
Baldwin J, Engmann N, Stanczyk S, McKay K, Pokrzywinski R.   +4 more
europepmc   +1 more source

Infusion rate adjustment in enzyme replacement therapy with pabinafusp alfa for mucopolysaccharidosis II. [PDF]

Br J Clin Pharmacol
Nakamura K, Sakai N, Hirai H, Takasao N, Ibaraki R, Yamamoto T, Sato Y.   +6 more
europepmc   +1 more source