scholarly journals Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts.

1978 ◽  
Vol 75 (10) ◽  
pp. 5185-5189 ◽  
Author(s):  
U. Klein ◽  
H. Kresse ◽  
K. von Figura
Keyword(s):  
Skin Fibroblasts ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Type C

Sanfilippo syndrome type C: A clinicopathological autopsy study of a long-term survivor

1996 ◽  
Vol 14 (4) ◽  
pp. 317-321 ◽  
Author(s):  
Mana Kurihara ◽  
Komei Kumagai ◽  
Saburo Yagishita
Keyword(s):  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Autopsy Study ◽  
Type C ◽  
Term Survivor

Perspectives into the spatial organization of HGSNAT protein structure for Sanfilippo syndrome type C (MPS IIIC)

2020 ◽  
Vol 129 (2) ◽  
pp. S131-S132
Author(s):  
Alejandra Puentes-Tellez ◽  
Felipe Rojas-Rodriguez ◽  
Janneth Gonzalez ◽  
Carlos Javier Almeciga-Diaz
Keyword(s):  
Protein Structure ◽  
Spatial Organization ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Type C

Synaptic dysfunction in Sanfilippo syndrome type C

2016 ◽  
Vol 117 (2) ◽  
pp. S39 ◽  
Author(s):  
Camila de Aragao ◽  
Luigi Bruno ◽  
Chanshuai Han ◽  
Graziella DiCristo ◽  
Peter McPherson ◽  
...  
Keyword(s):  
Synaptic Dysfunction ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Type C

scholarly journals Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

2011 ◽  
Vol 258 (8) ◽  
pp. 1564-1565 ◽  
Author(s):  
M. Ali Pervaiz ◽  
Marc C. Patterson ◽  
Eduard A. Struys ◽  
Gajja S. Salomons ◽  
Cornelis Jakobs ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Co Morbidity ◽  
Type C

scholarly journals A RARE CASE OF SANFILIPPO SYNDROME TYPE “C”

2020 ◽  
Vol 07 (05) ◽  
pp. 236-238
Author(s):  
Ansh Agarwal ◽  
Kashish Goyal ◽  
Priyanshu Mathur ◽  
Avisha Mathur
Keyword(s):  
Rare Case ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Type C

scholarly journals The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation

2013 ◽  
Vol 33 (1) ◽  
pp. 75-79 ◽  
Author(s):  
Hee Jae Huh ◽  
Ja Young Seo ◽  
Sung Yoon Cho ◽  
Chang-Seok Ki ◽  
Soo-Youn Lee ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Molecular Investigation ◽  
Type C

54. Sanfilippo syndrome type C: Novel mutations in the HGSNAT gene

2009 ◽  
Vol 96 (2) ◽  
pp. S24
Author(s):  
Matthew Feldhammer ◽  
Stephanie Durand ◽  
Lenka Mrazova ◽  
Otto P. van Diggelen ◽  
Martin Hrebicek ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Novel Mutations ◽  
Type C

Second trimester prenatal diagnosis of Sanfilippo syndrome type C

1993 ◽  
Vol 16 (3) ◽  
pp. 584-586 ◽  
Author(s):  
I. Maire ◽  
S. Epelbaum ◽  
M. Piraud ◽  
G. Mandon ◽  
R. Dumoulin ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Syndrome Type ◽  
Second Trimester ◽  
Sanfilippo Syndrome ◽  
Type C
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