Total: 6 |
|
PMID (PMCID) | ||
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28267090 |
FEMALE | Infant, Newborn |
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency. | ||
Soylu Ustkoyuncu P, Mutlu FT, Kiraz A, Tag Balkis Z, Yel S. J Pediatr Hematol Oncol. 2018;40(1):e45-e49. |
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A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency. | ||
28267090 |
FEMALE | Infant, Newborn |
A Rare Cause of Neonatal Hemolytic Anemia: Glutathione Synthetase Deficiency. | ||
Soylu Ustkoyuncu P, Mutlu FT, Kiraz A, Tag Balkis Z, Yel S. J Pediatr Hematol Oncol. 2018;40(1):e45-e49. |
||
Isolated hemolysis or hemolytic anemia and 5-oxoprolinuria are 2 distinct medical conditions in the clinical spectrum associated with glutathione synthetase deficiency. | ||
26984560 (4961564) |
FEMALE | Infant |
Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency. | ||
Atwal PS, Medina CR, Burrage LC, Sutton VR. J Hum Genet. 2016;61(7):669-72. |
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Patients with glutathione synthetase deficiency typically present in the neonatal period with hemolytic anemia, metabolic acidosis and neurological impairment. | ||
27581854 |
MALE | Infant, Newborn |
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. | ||
Signolet I, Chenouard R, Oca F, Barth M, Reynier P, Denis MC, Simard G. Pediatrics. 2016;138(3):. |
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Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency. | ||
8634459 |
MIXED_SAMPLE | Child |
Three cases of hereditary nonspherocytic hemolytic anemia associated with red blood cell glutathione deficiency. | ||
Hirono A, Iyori H, Sekine I, Ueyama J, Chiba H, Kanno H, Fujii H, Miwa S. Blood. 1996;87(5):2071-4. |
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Hemolytic anemia was their only manifestation, and neither 5-oxoprolinemia nor 5-oxoprolinuria, which are usually associated with to generalized type of glutathione synthetase deficiency, was noted in our patients. | ||
6882923 |
MALE | Infant |
Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. | ||
Prchal JT, Crist WM, Roper M, Wellner VP. Blood. 1983;62(4):754-7. |
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Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. |