Glycosaminoglycans of foetal tissue in two cases of Hurler’s syndrome

Author(s):  
M. F. Dean ◽  
Helen Muir
1958 ◽  
Vol 97 (2) ◽  
pp. 275-279 ◽  
Author(s):  
K. Meyer ◽  
M. M. Grumbach ◽  
A. Linker ◽  
P. Hoffman
Keyword(s):  

1972 ◽  
Vol 47 (4) ◽  
pp. 959-964 ◽  
Author(s):  
Reuben Matalon ◽  
Albert Dorfman
Keyword(s):  

2013 ◽  
Vol 45 (11) ◽  
pp. 2456-2466 ◽  
Author(s):  
Enrico Ragni ◽  
Mariele Viganò ◽  
Valentina Parazzi ◽  
Tiziana Montemurro ◽  
Elisa Montelatici ◽  
...  

2018 ◽  
Vol 24 (2) ◽  
pp. 148-151
Author(s):  
AHM Tohurul Islam ◽  
Elora A Leema ◽  
Tapos K Das ◽  
O Ibne Ali ◽  
MH Rahman ◽  
...  

A girl named Tania, aged 5yrs was brought to Shaheed Ziaur Rahman Medical College Hospital, Bogra with the complains of swelling of both legs for 5days & low grade intermittent fever for 1month & she also had severe mental retardation, facial dysmorphism, hepatosplenomegaly, umbilical hernia, corneal clouding, large calvaria & features of dysostosis multiplex. Her clinical as well as radiological features arouse strong suspicion suffering from a rare genetic disease (autosomal recessive) hurler’s syndrome though it wasn’t confirmed by deficiency of specific enzyme or urinary excretion of GAG (glycosaminoglycan).TAJ 2011; 24(2): 148-151


PEDIATRICS ◽  
1977 ◽  
Vol 60 (5) ◽  
pp. 764-765
Author(s):  
Tadao Orii ◽  
Kazuko Sukegawa ◽  
Ryoji Minami ◽  
Tooru Nakao

We read with great interest the article entitled "The Iduronidase-Deficient Mucopolysaccharidoses: Clinical and Roentgenographic Features" (Pediatrics 57:111, January 1976). Hurler's syndrome, Scheie's syndrome, and Hurler/Scheie compound are characterized by a profound deficiency of α-L-iduronidase. To our knowledge Hurler's syndrome without α-L-iduronidase deficiency has not been reported. We had an opportunity to study three boys in whom the clinical and laboratory findings were similar to those of Hurler's syndrome but which differed enzymatically in that α-L-iduronidase activity was not deficient in the leukocytes and liver tissues.1


1974 ◽  
Vol 9 (2) ◽  
pp. 235
Author(s):  
Yak Woo Roh ◽  
In Young Ok
Keyword(s):  

1976 ◽  
Vol 69 (2) ◽  
pp. 305-310 ◽  
Author(s):  
John T. Dulaney ◽  
Aubrey Milunsky ◽  
Hugo W. Moser

1969 ◽  
Vol 10 (6) ◽  
pp. 534-548
Author(s):  
R.P. Harmel
Keyword(s):  

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