Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation.
Wu X, Jiao J, Xia Y, Yan X, Liu Z, Cao Y, Ma L.
Front Pediatr. 2023 Jul 27;11:1212405. doi: 10.3389/fped.2023.1212405. eCollection 2023.
PMID:37576147
Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency.
Kaur P, Chaudhry C, Panigrahi I, Srivastava P, Kaur A.
Lab Med. 2022 May 5;53(3):e59-e61. doi: 10.1093/labmed/lmab084.
PMID:34791353
Hereditary non-spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies.
Corrons JL, Alvarez R, Pujades A, Zarza R, Oliva E, Lasheras G, Callis M, Ribes A, Gelbart T, Beutler E.