合計: 4 |
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PMID (PMCID) | ||
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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. | ||
15519833 |
FEMALE | Infant, Newborn |
[Gluthathion synthetase deficit in a newborn infant]. | ||
Fily A, Vaillant C, Truffert P, Rouland V, Dobbelaere D, Kacet N. Arch Pediatr. 2004;11(11):1339-41. |
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We report an observation of a triplet newborn presenting with haemolysis, metabolic acidosis with no lactic acidosis revealing a glutathione synthetase deficiency. | ||
2702756 |
FEMALE | Middle Aged |
Pyroglutamic acidemia in an adult patient. | ||
Creer MH, Lau BW, Jones JD, Chan KM. Clin Chem. 1989;35(4):684-6. |
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We report an unusual case of high-anion-gap metabolic acidosis in a 52-year-old woman who was admitted with neurological complaints and breathing problems but without the characteristic clinical features of congenital glutathione synthetase deficiency. | ||
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. |