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2. Glutathione synthetase deficiency, an inborn error of metabolism involving the gamma-glutamyl cycle in patients with 5-oxoprolinuria (pyroglutamic aciduria). Wellner VP; Sekura R; Meister A; Larsson A Proc Natl Acad Sci U S A; 1974 Jun; 71(6):2505-9. PubMed ID: 4152248 [TBL] [Abstract][Full Text] [Related]
3. [Renal clearance of amino acid in a hyperprolinemic child]. Dodinval P; Willems C; Heusden AM; Hainaut H; Gottschalk C J Genet Hum; 1969 Oct; 17(3):297-315. PubMed ID: 5387412 [No Abstract] [Full Text] [Related]
4. Pure familial hyperprolinemia: isolated inborn error of aminoacid metabolism without other anomalies in a Sicilian family. Mollica F; Pavone L; Antener I Pediatrics; 1971 Aug; 48(2):225-31. PubMed ID: 5560617 [No Abstract] [Full Text] [Related]
5. Clinical findings and effect of sodium hydrogen carbonate in patients with glutathione synthetase deficiency. Gündüz M; Ünal Ö; Kavurt S; Türk E; Mungan NÖ J Pediatr Endocrinol Metab; 2016 Apr; 29(4):481-5. PubMed ID: 26669244 [TBL] [Abstract][Full Text] [Related]
6. [A family with pyroglutamic aciduria (author's transl)]. Porath U; Schreier K Dtsch Med Wochenschr; 1978 Jun; 103(22):939-42. PubMed ID: 657978 [No Abstract] [Full Text] [Related]
7. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Sass JO; Gemperle-Britschgi C; Tarailo-Graovac M; Patel N; Walter M; Jordanova A; Alfadhel M; Barić I; Çoker M; Damli-Huber A; Faqeih EA; García Segarra N; Geraghty MT; Jåtun BM; Kalkan Uçar S; Kriewitz M; Rauchenzauner M; Bilić K; Tournev I; Till C; Sayson B; Beumer D; Ye CX; Zhang LH; Vallance H; Alkuraya FS; van Karnebeek CD Mol Genet Metab; 2016 Sep; 119(1-2):44-9. PubMed ID: 27477828 [TBL] [Abstract][Full Text] [Related]
9. [Therapy of acid-base equilibrium disorders in children]. Riegel K Dtsch Med Wochenschr; 1969 May; 94(19):1021-4. PubMed ID: 5779803 [No Abstract] [Full Text] [Related]
10. Severity of metabolic acidosis as a determinant of bicarbonate requirements. Garella S; Dana CL; Chazan JA N Engl J Med; 1973 Jul; 289(3):121-6. PubMed ID: 4711340 [No Abstract] [Full Text] [Related]
12. [Glutathion-synthetase deficiency with 5-oxoprolinuria. Two new cases and a review of the literature (author's transl)]. Boivin P; Galand C; Schaison G Nouv Presse Med; 1978 May; 7(18):1531-5. PubMed ID: 673703 [TBL] [Abstract][Full Text] [Related]
13. Intravenous proline tolerance in a patient with hyperprolinaemia type II and his relatives. Similä S Helv Paediatr Acta; 1970 Jul; 25(3):287-92. PubMed ID: 5518053 [No Abstract] [Full Text] [Related]
14. On the mechanism of 5-oxoproline overproduction in 5-oxoprolinuria. Larsson A; Mattsson B Clin Chim Acta; 1976 Mar; 67(3):245-53. PubMed ID: 1261042 [TBL] [Abstract][Full Text] [Related]
15. Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. Shi ZZ; Habib GM; Rhead WJ; Gahl WA; He X; Sazer S; Lieberman MW Nat Genet; 1996 Nov; 14(3):361-5. PubMed ID: 8896573 [TBL] [Abstract][Full Text] [Related]
16. [Prolinuria]. Tada K Saishin Igaku; 1969 Jun; 24(6):1226-34. PubMed ID: 5805578 [No Abstract] [Full Text] [Related]
17. Metabolic acidosis in cyanotic congenital heart disease in infancy. Jordan SC Br Heart J; 1969 Nov; 31(6):797. PubMed ID: 5358180 [No Abstract] [Full Text] [Related]
18. Five Chinese patients with 5-oxoprolinuria due to glutathione synthetase and 5-oxoprolinase deficiencies. Li X; Ding Y; Liu Y; Ma Y; Song J; Wang Q; Yang Y Brain Dev; 2015 Nov; 37(10):952-9. PubMed ID: 25851806 [TBL] [Abstract][Full Text] [Related]
19. [Blood gas metabolism in children]. Oda T Rinsho Byori; 1971 Nov; 19(11):758-64. PubMed ID: 4945897 [No Abstract] [Full Text] [Related]
20. Cystathioninuria and renal iminoglycinuria in a pedigree. Whelan DT; Scriver CR N Engl J Med; 1968 Apr; 278(17):924-7. PubMed ID: 5644557 [No Abstract] [Full Text] [Related] [Next] [New Search]