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

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

PEDIATRICS ◽  
2007 ◽  
Vol 120 (5) ◽  
pp. e1255-e1261 ◽  
Author(s):  
A. Meyer ◽  
K. Kossow ◽  
A. Gal ◽  
C. Muhlhausen ◽  
K. Ullrich ◽  
...  
Keyword(s):  
Type A ◽  
Natural Course ◽  
Syndrome Type ◽  
Mucopolysaccharidosis Type ◽  
Sanfilippo Syndrome ◽  
Type Iiia ◽  
Mucopolysaccharidosis Type Iiia

Mitral valvar prolapse and regurgitation combined with aortic regurgitation in a child with Sanfilippo syndrome type A

1998 ◽  
Vol 8 (2) ◽  
pp. 271-273
Author(s):  
Ahmad Alturjuman ◽  
Ashok V. Mehta
Keyword(s):  
Aortic Regurgitation ◽  
Type A ◽  
White Female ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
First Case ◽  
Cardiovascular Involvement

SummaryCardiovascular involvement is commonly reported in various muco- polysaccharidoses. We report a first case of Sanfilippo syndrome type A in a 12-year-old white female who has developed combined progressive mitral valvar regurgitation due to prolapse and aortic regurgitation.

Impaired mitophagy causes brown adipose tissue activation and cachexia in Sanfilippo syndrome type A mice

2018 ◽  
Vol 123 (2) ◽  
pp. S43
Author(s):  
Jeffrey D. Esko ◽  
Chrissa A. Dwyer ◽  
Shih-Hsin Kan ◽  
Norah Al-Azzam ◽  
Bryan Thacker ◽  
...  
Keyword(s):  
Adipose Tissue ◽  
Brown Adipose Tissue ◽  
Type A ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Brown Adipose
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