Fundus autofluorescence and optical coherence tomography findings in glutathione synthetase deficiency

Author(s):  
Hande Taylan Şekeroğlu ◽  
Burcu Hismi ◽  
Sibel Kadayifcilar ◽  
Turgay Coskun
Eye ◽  
2021 ◽  
Author(s):  
Ramesh Venkatesh ◽  
Nikitha Gurram Reddy ◽  
Ram Snehith ◽  
Jophy Philip Cherry ◽  
Arpitha Pereira ◽  
...  

Blood ◽  
1983 ◽  
Vol 62 (4) ◽  
pp. 754-757 ◽  
Author(s):  
JT Prchal ◽  
WM Crist ◽  
M Roper ◽  
VP Wellner

Abstract The clinical and laboratory features of a 3-mo-old black male infant with glutathione (GSH) synthetase deficiency of the generalized type was evaluated. Partial albinism, brisk hemolytic anemia, recurrent febrile episodes, and mental retardation were noted. Also, severe recurrent metabolic acidosis and marked oxoprolinemia and oxoprolinuria were found in the proband but not in his first-degree relatives. The relationship of these disease manifestations to the underlying metabolic defect is discussed.


Retina ◽  
2010 ◽  
Vol 30 (7) ◽  
pp. 1095-1103 ◽  
Author(s):  
John C Hwang ◽  
David Y Kim ◽  
Chai Lin Chou ◽  
Stephen H Tsang

2012 ◽  
Vol 75 ◽  
pp. 60-70 ◽  
Author(s):  
Ana Fakin ◽  
Martina Jarc-Vidmar ◽  
Damjan Glavač ◽  
Crystel Bonnet ◽  
Christine Petit ◽  
...  

Author(s):  
Renata del Carmen Garcia Franco ◽  
Marlon Rafael Garcia Roa ◽  
Veronica Romero Morales ◽  
Miguel Angel Vazquez Membrillo ◽  
Ximena Mira Lorenzo ◽  
...  

2011 ◽  
Vol 52 (6) ◽  
pp. 3761 ◽  
Author(s):  
Monika Fleckenstein ◽  
Steffen Schmitz-Valckenberg ◽  
Christine Martens ◽  
Sebastian Kosanetzky ◽  
Christian K. Brinkmann ◽  
...  

2016 ◽  
Vol Volume 10 ◽  
pp. 1953-1964 ◽  
Author(s):  
Daniel Samuelsson ◽  
Monika Sznage ◽  
Karl Engelsberg ◽  
Elisabeth Wittström

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