Results 121 to 130 of about 15,739 (180)

Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension. [PDF]

JIMD Rep
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Rust S, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D.   +14 more
europepmc   +1 more source

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis. [PDF]

Int J Neonatal Screen
Thampy R, Pillai NR, Evans M, Whitley CB, Orchard PJ, Ellinwood M, Gaviglio A.   +6 more
europepmc   +1 more source

A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib. [PDF]

Iran J Pathol
Vahedi-Larijani L, Sotoudeh Anvari M, Biglari A, Nabati M, Banihashemi H, Mohammadi Kharkeshi M.   +5 more
europepmc   +1 more source

Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study. [PDF]

Neurol Int
Wiertel-Krawczuk A, Krawczuk Z, Huber J.
europepmc   +1 more source

Bilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology. [PDF]

Case Rep Ophthalmol Med
Lobo R, Al-Hinai A, Al Busaidi A.
europepmc   +1 more source

Evaluation of GlcNAc-Configured Glycomimetics as Pharmacological Chaperones of NAGLU for the Treatment of Mucopolysaccharidosis IIIB. [PDF]

Biomolecules
Ballout N, Désiré J, Espejo-Mojica AJ, Niño-Traslaviña K, Sandoval D, Alméciga-Díaz CJ, Blériot Y, Ausseil J.   +7 more
europepmc   +1 more source

Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review. [PDF]

BMC Pediatr
Liu RY, Dai YL, Zou CC.
europepmc   +1 more source

Orofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases. [PDF]

Head Face Med
Çoğulu D, Uçar SK, Canda E, Atila EK, Alpöz AR, Çoker M.   +5 more
europepmc   +1 more source