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

2020 ◽  
Vol 129 (2) ◽  
pp. S141
Author(s):  
Stephanie Sacharow
Keyword(s):  
Type A ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Dysostosis Multiplex ◽  
Mps Iiia

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

2015 ◽  
Vol 19 ◽  
pp. S15-S16 ◽  
Author(s):  
I. Nestrasil ◽  
E. Shapiro ◽  
V. Kovac ◽  
A. Wakumoto ◽  
A. Ahmed ◽  
...  
Keyword(s):  
Disease Progression ◽  
Brain Mri ◽  
Type A ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Mps Iiia

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

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 ◽  
Mps Iiia

Cardiac Ultrasound Findings in Sanfilippo Syndrome Type A

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

2012 ◽  
Vol 105 (2) ◽  
pp. S58 ◽  
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

2001 ◽  
Vol 100 (3) ◽  
pp. 223-228 ◽  
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

Design and rational of the natural history study in preparation for the pivotal clinical trial for the treatment of Sanfilippo syndrome type A

2017 ◽  
Vol 120 (1-2) ◽  
pp. S25-S26
Author(s):  
Soraya Bekkali ◽  
Samantha Parker ◽  
Anupam Chakrapani ◽  
Roberto Giugliani ◽  
Benedicte Heron ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Natural History ◽  
Type A ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Natural History Study ◽  
Pivotal Clinical Trial
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