Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)

Sanfilippo Syndrome ◽

Type Iiia ◽

Identification And Characterization ◽

Interim results of Transpher A, a multicenter, single-dose, phase 1/2 clinical trial of ABO-102 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2019.11.129 ◽

2020 ◽

Vol 129 (2) ◽

pp. S56-S57 ◽

Cited By ~ 1

Author(s):

Kevin M. Flanigan ◽

Nicholas J.C. Smith ◽

Maria Luz Couce ◽

Kristen V. Truxal ◽

Kim L. McBride ◽

...

Keyword(s):

Clinical Trial ◽

Gene Therapy ◽

Single Dose ◽

Phase 1 ◽

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Type Iiia ◽

Scoring Evaluation of the Natural Course of Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)

PEDIATRICS ◽

10.1542/peds.2007-0282 ◽

2007 ◽

Vol 120 (5) ◽

pp. e1255-e1261 ◽

Cited By ~ 74

Author(s):

A. Meyer ◽

K. Kossow ◽

A. Gal ◽

C. Muhlhausen ◽

K. Ullrich ◽

...

Keyword(s):

Type A ◽

Natural Course ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Type Iiia ◽

Natural history of siblings with mucopolysaccharidosis type IIIA, Sanfilippo syndrome type A

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2016.11.127 ◽

2017 ◽

Vol 120 (1-2) ◽

pp. S57-S58

Author(s):

Alexandra Gossler ◽

Anja Koehn ◽

Ann Meyer ◽

Kai Kossow ◽

Kurt Ullrich ◽

...

Keyword(s):

Natural History ◽

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Type Iiia ◽

History Of ◽

Characterization of Sulfated Oligosaccharides in Mucopolysaccharidosis Type IIIA by Electrospray Ionization Mass Spectrometry

Analytical Chemistry ◽

10.1021/ac052083d ◽

2006 ◽

Vol 78 (13) ◽

pp. 4534-4542 ◽

Cited By ~ 28

Author(s):

Kerryn E. Mason ◽

Peter J. Meikle ◽

John J. Hopwood ◽

Maria Fuller

Keyword(s):

Mass Spectrometry ◽

Electrospray Ionization ◽

Electrospray Ionization Mass Spectrometry ◽

Ionization Mass Spectrometry ◽

Ionization Mass ◽

Sulfated Oligosaccharides ◽

Type Iiia ◽

Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA

Brain Research ◽

10.1016/j.brainres.2006.05.079 ◽

2006 ◽

Vol 1104 (1) ◽

pp. 1-17 ◽

Cited By ~ 69

Author(s):

Allison C. Crawley ◽

Briony L. Gliddon ◽

Dyane Auclair ◽

Suzanne L. Brodie ◽

Craig Hirte ◽

...

Keyword(s):

Mouse Strain ◽

Congenic Mouse ◽

Congenic Mouse Strain ◽

Type Iiia ◽

Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene

Ophthalmic Genetics ◽

10.3109/13816810.2015.1028647 ◽

2015 ◽

Vol 37 (2) ◽

pp. 217-227 ◽

Cited By ~ 3

Author(s):

Justin Wilkin ◽

Natalie C. Kerr ◽

Kathryn W. Byrd ◽

Jewell C. Ward ◽

Alessandro Iannaccone

Keyword(s):

Compound Heterozygous ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Pigmentary Retinopathy ◽

Type Iiia ◽

Compound Heterozygous Mutations

A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)

PLoS ONE ◽

10.1371/journal.pone.0121511 ◽

2015 ◽

Vol 10 (3) ◽

pp. e0121511 ◽

Cited By ~ 5

Author(s):

Krastyu G. Ugrinov ◽

Stefan D. Freed ◽

Clayton L. Thomas ◽

Shaun W. Lee

Keyword(s):

Computational Algorithm ◽

Comprehensive Assessment ◽

Genetic Mutations ◽

Sanfilippo Syndrome ◽

Type Iiia ◽

In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2003.11.007 ◽

2004 ◽

Vol 81 (2) ◽

pp. 86-95 ◽

Cited By ~ 6

Author(s):

Adeline A Lau ◽

Kim M Hemsley ◽

Adrian Meedeniya ◽

John J Hopwood

Keyword(s):

Stem Cells ◽

Embryonic Stem Cells ◽

Genetically Modified ◽

Embryonic Stem ◽

Type Iiia ◽

In Vitro Characterization ◽

Gene Therapy With Modified Autologous Hematopoietic Stem Cells for Patients With Mucopolysaccharidosis Type IIIA

Case Medical Research ◽

10.31525/ct1-nct04201405 ◽

2019 ◽

Author(s):

Keyword(s):

Stem Cells ◽

Gene Therapy ◽

Hematopoietic Stem Cells ◽

Hematopoietic Stem ◽

Type Iiia ◽

Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2014.09.003 ◽

2014 ◽

Vol 1 ◽

pp. 422-424 ◽

Cited By ~ 5

Author(s):

Erlane Marques Ribeiro ◽

Ana Carolina Brusius-Facchin ◽

Sandra Leistner-Segal ◽

Carlos Antônio Bruno da Silva ◽

Ida Vanessa Schwartz

Keyword(s):

Case Report ◽

Cardiac Disease ◽

Type Iiia ◽