scholarly journals Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

2020 ◽  
Author(s):  
Keyword(s):  
Ehlers Danlos Syndrome ◽  
Lysyl Hydroxylase ◽  
Lysyl Hydroxylase 1 ◽  
Danlos Syndrome

Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers–Danlos syndrome type VI

2000 ◽  
Vol 19 (1) ◽  
pp. 37-46 ◽  
Author(s):  
Heather N Yeowell ◽  
Jayme D Allen ◽  
Linda C Walker ◽  
Mayra A Overstreet ◽  
Saood Murad ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Lysyl Hydroxylase ◽  
Lysyl Hydroxylase 1 ◽  
Danlos Syndrome

scholarly journals Adenoviral Gene Transfer Restores Lysyl Hydroxylase Activity in Type VI Ehlers-Danlos Syndrome

2001 ◽  
Vol 116 (4) ◽  
pp. 602-605 ◽  
Author(s):  
Tanja Rauma ◽  
Sanna Kumpumäki ◽  
Richard Anderson ◽  
Beverly L. Davidson ◽  
Heli Ruotsalainen ◽  
...  
Keyword(s):  
Gene Transfer ◽  
Hydroxylase Activity ◽  
Ehlers Danlos Syndrome ◽  
Lysyl Hydroxylase ◽  
Adenoviral Gene Transfer ◽  
Danlos Syndrome
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