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http://purl.uniprot.org/citations/26669244	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26669244	http://www.w3.org/2000/01/rdf-schema#comment	" Background Glutathione synthetase (GS) deficiency is a rare inborn error of glutathione (GSH) metabolism manifested by severe metabolic acidosis, hemolytic anemia, neurological problems and massive excretion of pyroglutamic acid (5-oxoproline) in the urine. The disorder has mild, moderate, and severe clinical variants. We aimed to report clinical and laboratory findings of four patients, effect of sodium hydrogen carbonate treatment and long-term follow up of three patients. Methods Urine organic acid analysis was performed with gas chromatography-mass spectrometry. Molecular genetic analysis was performed in three patients, mutation was found in two of them. Enzyme analysis was performed in one patient. Clinical and laboratory findings of four patients were evaluated. Results One patient died at 4 months old, one patient's growth and development are normal, two patients have developed intellectual disability and seizures in the long term follow up period. Three patients benefited from sodium hydrogen carbonate treatment. Conclusions The clinical picture varies from patient to patient, so it is difficult to predict the prognosis and the effectiveness of treatment protocols. We reported long term follow up of four patients and demonstrated that sodium hydrogen carbonate is effective for treatment of chronic metabolic acidosis in GS deficieny."xsd:string
http://purl.uniprot.org/citations/26669244	http://purl.org/dc/terms/identifier	"doi:10.1515/jpem-2015-0308"xsd:string
http://purl.uniprot.org/citations/26669244	http://purl.uniprot.org/core/author	"Unal O."xsd:string
http://purl.uniprot.org/citations/26669244	http://purl.uniprot.org/core/author	"Turk E."xsd:string
http://purl.uniprot.org/citations/26669244	http://purl.uniprot.org/core/author	"Gunduz M."xsd:string
http://purl.uniprot.org/citations/26669244	http://purl.uniprot.org/core/author	"Mungan N.O."xsd:string
http://purl.uniprot.org/citations/26669244	http://purl.uniprot.org/core/author	"Kavurt S."xsd:string
http://purl.uniprot.org/citations/26669244	http://purl.uniprot.org/core/date	"2016"xsd:gYear
http://purl.uniprot.org/citations/26669244	http://purl.uniprot.org/core/name	"J Pediatr Endocrinol Metab"xsd:string
http://purl.uniprot.org/citations/26669244	http://purl.uniprot.org/core/pages	"481-485"xsd:string
http://purl.uniprot.org/citations/26669244	http://purl.uniprot.org/core/title	"Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency."xsd:string
http://purl.uniprot.org/citations/26669244	http://purl.uniprot.org/core/volume	"29"xsd:string
http://purl.uniprot.org/citations/26669244	http://www.w3.org/2004/02/skos/core#exactMatch	http://purl.uniprot.org/pubmed/26669244
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http://purl.uniprot.org/uniprot/#_A0A0S2Z4J7-mappedCitation-26669244	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/26669244
http://purl.uniprot.org/uniprot/#_B7Z1C5-mappedCitation-26669244	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/26669244
http://purl.uniprot.org/uniprot/#_B7Z514-mappedCitation-26669244	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/26669244
http://purl.uniprot.org/uniprot/#_P48637-mappedCitation-26669244	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/26669244
http://purl.uniprot.org/uniprot/#_Q8TDA8-mappedCitation-26669244	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/26669244
http://purl.uniprot.org/uniprot/#_V9HWJ1-mappedCitation-26669244	http://www.w3.org/1999/02/22-rdf-syntax-ns#object	http://purl.uniprot.org/citations/26669244
http://purl.uniprot.org/uniprot/B7Z1C5	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/26669244
http://purl.uniprot.org/uniprot/Q8TDA8	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/26669244
http://purl.uniprot.org/uniprot/B7Z514	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/26669244
http://purl.uniprot.org/uniprot/P48637	http://purl.uniprot.org/core/mappedCitation	http://purl.uniprot.org/citations/26669244