Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

Satoshi Ekuni; Kei Hirayama; Miwako Nagasaka; Keita Osumi; Hidehito Kondo; Erina Nakahara; Keiko Shimojima Yamamoto; Hitoshi Kanno; Yoshinori Katayama

doi:10.12659/AJCR.938396

13 April 2023: Articles

Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

Rare disease

Satoshi Ekuni ^* , Kei Hirayama ^* , Miwako Nagasaka ^A* , Keita Osumi ^B , Hidehito Kondo ^B , Erina Nakahara ^C , Keiko Shimojima Yamamoto ^C , Hitoshi Kanno ^C , Yoshinori Katayama ^D

DOI: 10.12659/AJCR.938396

Am J Case Rep 2023; 24:e938396

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Figure 2. Brain magnetic resonance imaging (MRI) at age 25 months. Brain MRI shows dilated ventricular and mild brain atrophy. This figure is an original image.

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Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-Up

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