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Quoted phrase not found in phrase index: "Fructose-biphosphatase deficiency"
Page 1
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-up.
Gorce M, Lebigot E, Arion A, Brassier A, Cano A, De Lonlay P, Feillet F, Gay C, Labarthe F, Nassogne MC, Roche S, Roubertie A, Sacaze E, Touati G, Broué P. Gorce M, et al. J Inherit Metab Dis. 2022 Mar;45(2):215-222. doi: 10.1002/jimd.12452. Epub 2021 Dec 1. J Inherit Metab Dis. 2022. PMID: 34687058 Review.
Some cases are probably related to undiagnosed inherited metabolic disorders. Hepatic disorders associated with fructose-1,6-bisphosphatase deficiency, a gluconeogenesis defect, are not reported in the literature. ...Herein, the liver manifestations of 18 patients a …
Some cases are probably related to undiagnosed inherited metabolic disorders. Hepatic disorders associated with fructose-1,6-bisphosp …
Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.
Moey LH, Abdul Azize NA, Yakob Y, Leong HY, Keng WT, Chen BC, Ngu LH. Moey LH, et al. Pediatr Neonatol. 2018 Aug;59(4):397-403. doi: 10.1016/j.pedneo.2017.11.006. Epub 2017 Nov 13. Pediatr Neonatol. 2018. PMID: 29203193 Free article.
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inborn error of gluconeogenesis. We reported the clinical findings and molecular genetic data in seven Malaysian patients with FBPase deficiency. METHODS: All patients d …
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive inborn error of gluconeogenesis. We …
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. Ijaz S, et al. J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1203-1210. doi: 10.1515/jpem-2017-0188. J Pediatr Endocrinol Metab. 2017. PMID: 29016355
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic acidosis. FBPase is encoded by FBP1 gene and catalyzes the hydrolysis of fructose-1,6-bi …
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent …
Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children.
Sherazi NA, Khan AH, Jafri L, Jamil A, Khan NA, Afroze B. Sherazi NA, et al. J Coll Physicians Surg Pak. 2017 Apr;27(4):218-221. J Coll Physicians Surg Pak. 2017. PMID: 28492150
Five (5.7%) cases of MHBD (2-methyl-3-hydroxybutyryl-CoA), 4 (4.5%) each of PPA (propionic aciduria) and HMG-CoA lyase deficiency, 3 (3.4%) cases each of IVA (isovaleric aciduria), multiple carboxylase deficiency, fructose-1, 6-biphosphatase deficie
Five (5.7%) cases of MHBD (2-methyl-3-hydroxybutyryl-CoA), 4 (4.5%) each of PPA (propionic aciduria) and HMG-CoA lyase deficiency, 3 …
Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis.
Åsberg C, Hjalmarson O, Alm J, Martinsson T, Waldenström J, Hellerud C. Åsberg C, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S113-21. doi: 10.1007/s10545-009-9034-5. Epub 2010 Feb 12. J Inherit Metab Dis. 2010. PMID: 20151204
Fructose 1,6-bisphosphatase (FBPase) deficiency is an inborn error of metabolism in the gluconeogenetic pathway. ...In conclusion, we present a reliable diagnostic system to verify an FBPase deficiency and find the genetic aberration....
Fructose 1,6-bisphosphatase (FBPase) deficiency is an inborn error of metabolism in the gluconeogenetic pathway. ...In conclus
The diagnosis of hereditary fructose intolerance.
Steinmann B, Gitzelmann R. Steinmann B, et al. Helv Paediatr Acta. 1981 Sep;36(4):297-316. Helv Paediatr Acta. 1981. PMID: 6268573
Essential fructosuria is readily diagnosed by the FTT, but fructose-1,6-diphosphatase deficiency and HFI are not differentiated with certainty. ...In these, HFI could only be excluded when the reduced activity of reference enzymes such as fru
Essential fructosuria is readily diagnosed by the FTT, but fructose-1,6-diphosphatase deficiency and HFI …
Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.
Salih RM, Mohammed EA, Alhashem AM, Mohamed S, Al-Aqeel AI. Salih RM, et al. Saudi Med J. 2020 Feb;41(2):199-202. doi: 10.15537/smj.2020.2.24885. Saudi Med J. 2020. PMID: 32020156 Free PMC article.
To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies. Methods: This observational, cross-sectional study was conducted on 7 Saudi patients wi …
To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic aci …
Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency.
Bührdel P, Böhme HJ, Didt L. Bührdel P, et al. Eur J Pediatr. 1990 May;149(8):574-6. doi: 10.1007/BF01957696. Eur J Pediatr. 1990. PMID: 2347355
Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are reported. All four patients had less than 25% residual hepatic FDPase activity. While in two out of three patients the enzyme deficiency w …
Three boys and one girl suffering from inherited fructose-1,6-diphosphatase (FDPase) deficiency are repor …
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
Faiyaz-Ul-Haque M, Al-Owain M, Al-Dayel F, Al-Hassnan Z, Al-Zaidan H, Rahbeeni Z, Al-Sayed M, Balobaid A, Cluntun A, Toulimat M, Abalkhail H, Peltekova I, Zaidi SH. Faiyaz-Ul-Haque M, et al. Eur J Pediatr. 2009 Dec;168(12):1467-71. doi: 10.1007/s00431-009-0953-9. Epub 2009 Mar 4. Eur J Pediatr. 2009. PMID: 19259699
Deficiency of fructose-1,6-bisphosphatase (FBP) results in impaired gluconeogenesis, which is characterized by episodes of hyperventilation, apnea, hypoglycemia, and metabolic and lactic acidosis. ...A novel nonsense c.841G>T mutation encoding for a p.Glu281X tru
Deficiency of fructose-1,6-bisphosphatase (FBP) results in impaired gluconeogenesis, which is characterized by episodes of hyp
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