Significant neuropsychiatric symptoms: three mucopolysaccharidosis type IIIB cases, two of whom were siblings with a novel NAGLU gene mutation

Type Iiib ◽

Intravenous SBC-103, a recombinant human alpha-N-acetylglucosaminidase reduces CNS heparan sulfate content in a mucopolysaccharidosis type IIIB mouse model

10.1016/j.ymgme.2013.12.222 ◽

2014 ◽

Vol 111 (2) ◽

pp. S92 ◽

Cited By ~ 3

Author(s):

Joseph V. Rutkowski ◽

Kari Harbert ◽

Hao Xu ◽

Wei Hu ◽

Matthew Renninger ◽

...

Keyword(s):

Mouse Model ◽

Heparan Sulfate ◽

Sulfate Content ◽

Type Iiib ◽

The neurobehavioral phenotype in mucopolysaccharidosis Type IIIB: An exploratory study

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2016.01.003 ◽

2016 ◽

Vol 6 ◽

pp. 41-47 ◽

Cited By ~ 24

Author(s):

E. Shapiro ◽

K. King ◽

A. Ahmed ◽

K. Rudser ◽

R. Rumsey ◽

...

Keyword(s):

Exploratory Study ◽

Type Iiib ◽

Processing and trafficking of N-acetyl-α-glucosaminidase in fibroblasts of patients with mucopolysaccharidosis type IIIB

10.1016/j.ymgme.2016.11.236 ◽

2017 ◽

Vol 120 (1-2) ◽

pp. S95

Author(s):

Olga L Meijer ◽

Heleen te Brinke ◽

Rob Ofman ◽

Lodewijk IJlst ◽

Naomi van Vlies ◽

...

Keyword(s):

Type Iiib ◽

Murine cellular model of mucopolysaccharidosis, type IIIB (MPS IIIB) – A preliminary study with particular emphasis on the non-oxidative l-cysteine metabolism

Biochimie ◽

10.1016/j.biochi.2020.04.015 ◽

2020 ◽

Vol 174 ◽

pp. 84-94

Author(s):

Marta Kaczor-Kamińska ◽

Krystyna Stalińska ◽

Kamil Kamiński ◽

Aleksandra Pisarek ◽

Urszula Maziarz ◽

...

Keyword(s):

Cellular Model ◽

Cysteine Metabolism ◽

Type Iiib ◽

Preliminary Study ◽

Twenty-six week or longer intracerebroventricular (ICV) infusion study of BMN 250 administered once every 2weeks in a canine model of mucopolysaccharidosis type IIIB (MPS IIIB)

10.1016/j.ymgme.2015.12.248 ◽

2016 ◽

Vol 117 (2) ◽

pp. S43

Author(s):

N. Matthew Ellinwood ◽

Bethann N. Johnson ◽

Jackie K. Jens ◽

Elizabeth M. Snella ◽

Wendy A. Ware ◽

...

Keyword(s):

Canine Model ◽

Type Iiib ◽

Infusion Study ◽

The impact of GC content on CRISPR/Cas9 gene editing: implications for mucopolysaccharidosis type IIIB

10.1016/j.ymgme.2017.12.061 ◽

2018 ◽

Vol 123 (2) ◽

pp. S32

Author(s):

Samuel S. Chu ◽

Chloe L. Christensen ◽

Francis Y.M. Choy

Keyword(s):

Gene Editing ◽

Gc Content ◽

Type Iiib ◽

The Impact ◽

Enhanced degradation of synaptophysin by the proteasome in mucopolysaccharidosis type IIIB

Molecular and Cellular Neuroscience ◽

10.1016/j.mcn.2009.01.001 ◽

2009 ◽

Vol 41 (1) ◽

pp. 8-18 ◽

Cited By ~ 24

Author(s):

Sandrine Vitry ◽

Jérôme Ausseil ◽

Michael Hocquemiller ◽

Stéphanie Bigou ◽

Renata dos Santos Coura ◽

...

Keyword(s):

Type Iiib ◽

Mucopolysaccharidosis Type Iiib ◽

Enhanced Degradation

Processing of mutant N -acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature

10.1016/j.ymgme.2017.07.005 ◽

2017 ◽

Vol 122 (1-2) ◽

pp. 100-106 ◽

Cited By ~ 2

Author(s):

O.L.M. Meijer ◽

H. te Brinke ◽

R. Ofman ◽

L. IJlst ◽

F.A. Wijburg ◽

...

Keyword(s):

Low Temperature ◽

Type Iiib ◽

Pharmacology of BMN 250 administered via intracerebroventricular infusion once every 2 weeks for twenty-six weeks or longer in a canine model of mucopolysaccharidosis type IIIB

10.1016/j.ymgme.2017.12.091 ◽

2018 ◽

Vol 123 (2) ◽

pp. S42 ◽

Cited By ~ 5

Author(s):

N. Matthew Ellinwood ◽

Bethann Valentine ◽

Andrew S. Hess ◽

Jackie K. Jens ◽

Elizabeth M. Snella ◽

...

Keyword(s):

Canine Model ◽

Intracerebroventricular Infusion ◽

Type Iiib ◽

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)

Journal of Medical Genetics ◽

10.1136/jmg.39.2.e3 ◽

2002 ◽

Vol 39 (2) ◽

pp. 3e-3 ◽

Cited By ~ 15

Author(s):

G-J Lee-Chen

Keyword(s):

Syndrome Type ◽

Type B ◽

Sanfilippo Syndrome ◽

Type Iiib ◽