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Glutamate-cysteine ligase deficiency

A disorder that is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.

Hemolytic anemia

A type of anemia caused by premature destruction of red blood cells (hemolysis).

Total: 2

(per page)

PMID (PMCID)
28571779	MIXED_SAMPLE	Infant
	Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia.
	Almusafri F, Elamin HE, Khalaf TE, Ali A, Ben-Omran T, El-Hattab AW. Blood Cells Mol Dis. 2017;65:73-77.
	Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia.
18024385	MALE
	Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.
	Manu Pereira M, Gelbart T, Ristoff E, Crain KC, Bergua JM, Lopez Lafuente A, Kalko SG, Garcia Mateos E, Beutler E, Vives Corrons JL. Haematologica. 2007;92(11):e102-5.
	Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.