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23. Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency. Burlina AB; Poletto M; Shin YS; Zacchello F J Inherit Metab Dis; 1990; 13(3):263-6. PubMed ID: 2122081 [No Abstract] [Full Text] [Related]
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25. [Severe lactic acidosis requiring continuos haemodiafiltration in a young patient with unrecognized metabolic abnormality. Case report]. Vigotti FN; Daidola G; Marciello A; Berruto F; Rizzuto A; Reina E; Perosa PM; Saltarelli M G Ital Nefrol; 2018 Feb; 35(1):. PubMed ID: 29390242 [TBL] [Abstract][Full Text] [Related]
27. Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia. Hodax JK; Uysal S; Quintos JB; Phornphutkul C J Pediatr Endocrinol Metab; 2017 Feb; 30(2):247-251. PubMed ID: 28085675 [TBL] [Abstract][Full Text] [Related]
28. Combined deficiency of glucose-6-phosphatase and fructose-1, 6-diphosphatase. Studies of glucagon secretion and fuel utilization. Service FJ; Veneziale CM; Nelson RA; Ellefson RD; Go VL Am J Med; 1978 Apr; 64(4):698-706. PubMed ID: 206139 [TBL] [Abstract][Full Text] [Related]
29. Lactic acidosis in childhood. Israels S; Haworth JC; Dunn HG; Applegarth DA Adv Pediatr; 1976; 22():267-303. PubMed ID: 178159 [TBL] [Abstract][Full Text] [Related]
30. Optic nerve hypoplasia and growth hormone deficiency in a cholestatic infant. Xinias I; Papadopoulou M; Papastavrou T; Patsiaoura K; Spiroglou K Pediatr Neurol; 2006 Apr; 34(4):319-22. PubMed ID: 16638511 [TBL] [Abstract][Full Text] [Related]
32. [Hypoglycemia and metabolic acidosis with fructose 1-6 diphosphatase deficiency]. David M Pediatrie; 1971 Mar; 26(2):223-5. PubMed ID: 4324355 [No Abstract] [Full Text] [Related]
33. Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report. Xin B; Chen H; Liu T; Wu Y; Hu Q; Dong X; Li Z Mol Genet Genomic Med; 2024 Jan; 12(1):e2339. PubMed ID: 38111981 [TBL] [Abstract][Full Text] [Related]
34. Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency. Bührdel P; Böhme HJ; Didt L Eur J Pediatr; 1990 May; 149(8):574-6. PubMed ID: 2347355 [TBL] [Abstract][Full Text] [Related]
35. Outbreak of life-threatening thiamine deficiency in infants in Israel caused by a defective soy-based formula. Fattal-Valevski A; Kesler A; Sela BA; Nitzan-Kaluski D; Rotstein M; Mesterman R; Toledano-Alhadef H; Stolovitch C; Hoffmann C; Globus O; Eshel G Pediatrics; 2005 Feb; 115(2):e233-8. PubMed ID: 15687431 [TBL] [Abstract][Full Text] [Related]
36. Novel compound heterozygous mutations in the fructose-1,6-bisphosphatase gene cause hypoglycemia and lactic acidosis. Moon S; Kim JH; Han JH; Ko SH; Ahn YB; Kim JH; Yang SH; Song KH Metabolism; 2011 Jan; 60(1):107-13. PubMed ID: 20096900 [TBL] [Abstract][Full Text] [Related]
37. Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology for GIS. Beatty ME; Zhang YH; McCabe ER; Steiner RD Mol Genet Metab; 2000 Apr; 69(4):338-40. PubMed ID: 10870852 [TBL] [Abstract][Full Text] [Related]
38. Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in Emecen Sanli M; Cengiz B; Kilic A; Ozsaydi E; Inci A; Okur I; Tumer L; Lebigot E; Ezgu F J Pediatr Endocrinol Metab; 2022 Apr; 35(4):497-503. PubMed ID: 35179010 [TBL] [Abstract][Full Text] [Related]
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40. Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families. Ijaz S; Zahoor MY; Imran M; Ramzan K; Bhinder MA; Shakeel H; Iqbal M; Aslam A; Shehzad W; Cheema HA; Rehman H J Pediatr Endocrinol Metab; 2017 Oct; 30(11):1203-1210. PubMed ID: 29016355 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]