glutathione synthetase deficiency
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Genotype and clinical phenotype in four patients with glutathione synthetase deficiency

Meta Gene ◽  
2020 ◽  
Vol 25 ◽  
pp. 100751
Author(s):  
Firas Alqarajeh ◽  
Sadi A. Abukhalaf ◽  
Bara' Hmeidat ◽  
Jacklyn O. Omorodion ◽  
Imad M. Dweikat
Keyword(s):  
Clinical Phenotype ◽  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency

Disorder: Glutathione synthetase deficiency

2020 ◽  
pp. 183-186
Author(s):  
Patricia Jones ◽  
Khushbu Patel ◽  
Dinesh Rakheja
Keyword(s):  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency

Glutathione synthetase deficiency: a novel mutation with femur agenesis

2019 ◽  
Vol 39 (1) ◽  
pp. 38-44
Author(s):  
Ipek Guney Varal ◽  
Pelin Dogan ◽  
Orhan Gorukmez ◽  
Sevil Dorum ◽  
Arzu Akdag
Keyword(s):  
Novel Mutation ◽  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency

Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy

2018 ◽  
Vol 41 (2) ◽  
pp. 116-121
Author(s):  
O. Fakhoury ◽  
J. Conrath ◽  
B. Donnadieu ◽  
R. Warrak ◽  
F. Matonti
Keyword(s):  
Macular Edema ◽  
Cystoid Macular Edema ◽  
Retinal Dystrophy ◽  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency

scholarly journals A case of severe glutathione synthetase deficiency with novel GSS mutations

2018 ◽  
Vol 51 (3) ◽  
Author(s):  
H. Xia ◽  
J. Ye ◽  
L. Wang ◽  
J. Zhu ◽  
Z. He
Keyword(s):  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency

Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency

PEDIATRICS ◽  
2016 ◽  
Vol 138 (3) ◽  
pp. e20154324-e20154324 ◽  
Author(s):  
I. Signolet ◽  
R. Chenouard ◽  
F. Oca ◽  
M. Barth ◽  
P. Reynier ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency

scholarly journals Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency

2016 ◽  
Vol 61 (7) ◽  
pp. 669-672 ◽  
Author(s):  
Paldeep S Atwal ◽  
Casey R Medina ◽  
Lindsay C Burrage ◽  
V Reid Sutton
Keyword(s):  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency
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