Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

Sanfilippo syndrome type A (MPS IIIA) with attenuated genotype manifesting in infancy with dysostosis multiplex

10.1016/j.ymgme.2019.11.371 ◽

2020 ◽

Vol 129 (2) ◽

pp. S141

Author(s):

Stephanie Sacharow

Keyword(s):

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Dysostosis Multiplex ◽

OP47 – 2274: Brain MRI patterns of disease progression in Sanfilippo syndrome type A (MPS IIIA)

European Journal of Paediatric Neurology ◽

10.1016/s1090-3798(15)30048-9 ◽

2015 ◽

Vol 19 ◽

pp. S15-S16 ◽

Cited By ~ 1

Author(s):

I. Nestrasil ◽

E. Shapiro ◽

V. Kovac ◽

A. Wakumoto ◽

A. Ahmed ◽

...

Keyword(s):

Disease Progression ◽

Brain Mri ◽

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Brain Volumes and Cognitive Function in MPS IIIA (Sanfilippo Syndrome Type A): Cross-sectional Study

10.1016/j.ymgme.2011.11.121 ◽

2012 ◽

Vol 105 (2) ◽

pp. S48-S49

Author(s):

Igor Nestrasil ◽

Alia Ahmed ◽

Kyle Rudser ◽

Kate Delaney ◽

Patrick Haslett ◽

...

Keyword(s):

Cognitive Function ◽

Type A ◽

Cross Sectional Study ◽

Syndrome Type ◽

Sectional Study ◽

Sanfilippo Syndrome ◽

Cross Sectional ◽

Brain Volumes ◽

Cockayne syndrome type A: novel mutations in eight typical patients

Journal of Human Genetics ◽

10.1007/s10038-006-0011-7 ◽

2006 ◽

Vol 51 (8) ◽

pp. 701-705 ◽

Cited By ~ 20

Author(s):

Debora R. Bertola ◽

Henian Cao ◽

Lilian M. J. Albano ◽

Daniela P. Oliveira ◽

Fernando Kok ◽

...

Keyword(s):

Type A ◽

Cockayne Syndrome ◽

Syndrome Type ◽

Novel Mutations

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)

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 ◽

Mucopolysaccharidosis Type ◽

Sanfilippo Syndrome ◽

Type Iiia ◽

Mucopolysaccharidosis Type Iiia

Cardiac Ultrasound Findings in Sanfilippo Syndrome Type A

10.1016/j.ymgme.2011.11.074 ◽

2012 ◽

Vol 105 (2) ◽

pp. S34

Author(s):

Brandon Hays ◽

Elizabeth Braunlin ◽

James Berry ◽

Brenda Diethelm-Okita ◽

Chester Whitley

Keyword(s):

Type A ◽

Cardiac Ultrasound ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Ultrasound Findings

Genotype, Disease Onset, And Neurocognitive Phenotype Of Sanfilippo Syndrome Type A

10.1016/j.ymgme.2011.11.152 ◽

2012 ◽

Vol 105 (2) ◽

pp. S58 ◽

Cited By ~ 1

Author(s):

Chester B. Whitley ◽

Renee Cooksley ◽

Brenda Diethelm-Okita ◽

Kathleen Delaney ◽

Patrick Haslett ◽

...

Keyword(s):

Disease Onset ◽

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome

Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: Possible single origin for 1091delC mutation

American Journal of Medical Genetics ◽

10.1002/ajmg.1248 ◽

2001 ◽

Vol 100 (3) ◽

pp. 223-228 ◽

Cited By ~ 16

Author(s):

Amparo Chab�s ◽

Magda Montfort ◽

Maruxa Mart�nez-Campos ◽

Anna D�az ◽

Maria Josep Coll ◽

...

Keyword(s):

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Single Origin

The impact on children and parents of participation in clinical research trials for Morquio syndrome type A and Sanfilippo syndrome type A

10.1016/j.ymgme.2013.12.059 ◽

2014 ◽

Vol 111 (2) ◽

pp. S32-S33

Author(s):

Tara Clancy ◽

Maria Farag ◽

Deborah Holliday ◽

Catherine Breen ◽

Simon Jones

Keyword(s):

Clinical Research ◽

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome ◽

Children And Parents ◽

Morquio Syndrome ◽

Clinical Research Trials ◽

The Impact

Intracerebral gene therapy for Sanfilippo syndrome type A

10.1016/j.ymgme.2012.11.281 ◽

2013 ◽

Vol 108 (2) ◽

pp. S102

Author(s):

Amina Zinai

Keyword(s):

Gene Therapy ◽

Type A ◽

Syndrome Type ◽

Sanfilippo Syndrome