Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I

The α-l-iduronidase mutations R89Q and R89W result in an attenuated mucopolysaccharidosis type I clinical presentation

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ◽

10.1016/s0925-4439(03)00129-7 ◽

2003 ◽

Vol 1639 (2) ◽

pp. 95-103 ◽

Cited By ~ 11

Author(s):

Leanne K Hein ◽

John J Hopwood ◽

Peter R Clements ◽

Doug A Brooks

Keyword(s):

Clinical Presentation ◽

Type I ◽

First in-human intracisternal dosing of RGX-111 (adeno-associated virus 9/human α-L-iduronidase) for a 20-month-old child with mucopolysaccharidosis type I (MPS I): 1 year follow-up

10.1016/j.ymgme.2020.12.270 ◽

2021 ◽

Vol 132 (2) ◽

pp. S110

Author(s):

Raymond Y. Wang ◽

Tammam Beydoun ◽

Nina Movsesyan ◽

Shih-Hsin Kan ◽

Mery Taylor ◽

...

Keyword(s):

Type I ◽

Adeno Associated Virus ◽

Mps I

Enzyme Replacement Therapy in an Attenuated Case of Mucopolysaccharidosis Type I (Scheie Syndrome): A 6.5-Year Detailed Follow-Up

Pediatric Neurology ◽

10.1016/j.pediatrneurol.2012.08.010 ◽

2012 ◽

Vol 47 (6) ◽

pp. 461-465 ◽

Cited By ~ 14

Author(s):

Agnieszka Jurecka ◽

Jolanta Marucha ◽

Elżbieta Jurkiewicz ◽

Agnieszka Różdżyńska-Świątkowska ◽

Anna Tylki-Szymańska

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Type I ◽

Enzyme Replacement ◽

Scheie Syndrome

Ultrasound findings of finger, wrist and knee joints in Mucopolysaccharidosis Type I

10.1016/j.ymgme.2021.05.009 ◽

2021 ◽

Author(s):

Johannes Roth ◽

Michal Inbar-Feigenberg ◽

Julian Raiman ◽

Marg Bisch ◽

Pranesh Chakraborty ◽

...

Keyword(s):

Knee Joints ◽

Type I ◽

Ultrasound Findings

Phase I/II clinical trial design for a novel therapy for mucopolysaccharidosis type I with an intravenously administered blood-brain barrier-crossing enzyme (JR-171)

10.1016/j.ymgme.2020.12.105 ◽

2021 ◽

Vol 132 (2) ◽

pp. S49

Author(s):

Ryo Higurashi ◽

Mika Okazaki ◽

Satoshi Kawashima ◽

Toshiaki Ikeda ◽

Sairei So ◽

...

Keyword(s):

Clinical Trial ◽

Phase I ◽

Blood Brain Barrier ◽

Trial Design ◽

Clinical Trial Design ◽

Brain Barrier ◽

Type I ◽

Novel Therapy

Sexual behaviour in a murine model of mucopolysaccharidosis type I (MPS I)

PLoS ONE ◽

10.1371/journal.pone.0220429 ◽

2019 ◽

Vol 14 (12) ◽

pp. e0220429 ◽

Cited By ~ 1

Author(s):

Ana Barbosa Mendes ◽

Cinthia Castro do Nascimento ◽

Vânia D’Almeida

Keyword(s):

Sexual Behaviour ◽

Murine Model ◽

Type I ◽

Mps I

430. Antibodies to Recombinant Human α-L-Iduronidase Enhance Uptake into Macrophages in Murine Mucopolysaccharidosis Type I

Molecular Therapy ◽

10.1016/s1525-0016(16)33239-7 ◽

2016 ◽

Vol 24 ◽

pp. S170-S171

Author(s):

Valentina Sanghez ◽

Shih-Hsin Kan ◽

Steven Q Le ◽

Don Clarke ◽

Kristen Vondrak ◽

...

Keyword(s):

Type I ◽

Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB

PLoS ONE ◽

10.1371/journal.pone.0035787 ◽

2012 ◽

Vol 7 (4) ◽

pp. e35787 ◽

Cited By ~ 103

Author(s):

Fiona L. Wilkinson ◽

Rebecca J. Holley ◽

Kia J. Langford-Smith ◽

Soumya Badrinath ◽

Aiyin Liao ◽

...

Keyword(s):

Mouse Models ◽

Type I ◽

Anti-drug antibody response in mucopolysaccharidosis type I patients treated with AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein

10.1016/j.ymgme.2017.12.343 ◽

2018 ◽

Vol 123 (2) ◽

pp. S126 ◽

Cited By ~ 3

Author(s):

Mathias Schmidt ◽

Ruben J. Boado ◽

Roberto Giugliani ◽

William M. Pardridge

Keyword(s):

Antibody Response ◽

Fusion Protein ◽

Insulin Receptor ◽

Human Insulin ◽

Type I ◽

Receptor Antibody ◽

Human Insulin Receptor

Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice

Behavioural Brain Research ◽

10.1016/j.bbr.2012.04.051 ◽

2012 ◽

Vol 233 (1) ◽

pp. 169-175 ◽

Cited By ~ 24

Author(s):

Guilherme Baldo ◽

Fabiana Quoos Mayer ◽

Barbara Martinelli ◽

Anna Dilda ◽

Fabiola Meyer ◽

...

Keyword(s):

Motor Dysfunction ◽

Type I ◽