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glutathione synthetase deficiency
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TOTAL DOCUMENTS
61
(FIVE YEARS 5)
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17
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Genotype and clinical phenotype in four patients with glutathione synthetase deficiency
Meta Gene
◽
10.1016/j.mgene.2020.100751
◽
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
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Glutathione synthetase deficiency
10.32388/v4qe1g
◽
2020
◽
Author(s):
Keyword(s):
Glutathione Synthetase
◽
Synthetase Deficiency
◽
Glutathione Synthetase Deficiency
Download Full-text
Glutathione Synthetase Deficiency
10.32388/ptbrg8
◽
2020
◽
Author(s):
Keyword(s):
Glutathione Synthetase
◽
Synthetase Deficiency
◽
Glutathione Synthetase Deficiency
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Disorder: Glutathione synthetase deficiency
A Quick Guide to Metabolic Disease Testing Interpretation
◽
10.1016/b978-0-12-816926-1.00036-5
◽
2020
◽
pp. 183-186
Author(s):
Patricia Jones
◽
Khushbu Patel
◽
Dinesh Rakheja
Keyword(s):
Glutathione Synthetase
◽
Synthetase Deficiency
◽
Glutathione Synthetase Deficiency
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Glutathione synthetase deficiency: a novel mutation with femur agenesis
Fetal and Pediatric Pathology
◽
10.1080/15513815.2019.1627627
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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
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Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy
Journal Français d Ophtalmologie
◽
10.1016/j.jfo.2017.08.010
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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
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Retinal Dystrophy
◽
Glutathione Synthetase
◽
Synthetase Deficiency
◽
Glutathione Synthetase Deficiency
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A case of severe glutathione synthetase deficiency with novel GSS mutations
Brazilian Journal of Medical and Biological Research
◽
10.1590/1414-431x20176853
◽
2018
◽
Vol 51
(3)
◽
Cited By ~ 2
Author(s):
H. Xia
◽
J. Ye
◽
L. Wang
◽
J. Zhu
◽
Z. He
Keyword(s):
Glutathione Synthetase
◽
Synthetase Deficiency
◽
Glutathione Synthetase Deficiency
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Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency
PEDIATRICS
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10.1542/peds.2015-4324
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2016
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Vol 138
(3)
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pp. e20154324-e20154324
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Cited By ~ 5
Author(s):
I. Signolet
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R. Chenouard
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F. Oca
◽
M. Barth
◽
P. Reynier
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...
Keyword(s):
Hemolytic Anemia
◽
Glutathione Synthetase
◽
Synthetase Deficiency
◽
Glutathione Synthetase Deficiency
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Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency
Journal of Human Genetics
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10.1038/jhg.2016.20
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2016
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Vol 61
(7)
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pp. 669-672
◽
Cited By ~ 4
Author(s):
Paldeep S Atwal
◽
Casey R Medina
◽
Lindsay C Burrage
◽
V Reid Sutton
Keyword(s):
Glutathione Synthetase
◽
Synthetase Deficiency
◽
Glutathione Synthetase Deficiency
Download Full-text
Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency
Journal of American Association for Pediatric Ophthalmology and Strabismus
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10.1016/j.jaapos.2014.09.014
◽
2015
◽
Vol 19
(1)
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pp. 80-82
◽
Cited By ~ 2
Author(s):
Hande Taylan Şekeroğlu
◽
Burcu Hismi
◽
Sibel Kadayifcilar
◽
Turgay Coskun
Keyword(s):
Optical Coherence Tomography
◽
Fundus Autofluorescence
◽
Glutathione Synthetase
◽
Optical Coherence
◽
Synthetase Deficiency
◽
Glutathione Synthetase Deficiency
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