A Chinese Adult Patient with Fructose 1,6-bisphosphatase Deficiency

Overview

Journal Chin Med J (Engl)

Specialty General Medicine

Date 2017 Aug 5

PMID 28776561

Citations 4

Authors

Jing-Ru Lu

Cui Wang

Le-Ping Shao

Affiliations

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Citing Articles

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An extremely rare case of hypoglycemia with a novel mutation and review of the literature: fructose-1,6 bisphosphatase deficiency in an adult man.

Dogruel H, Aydemir M, Yilmaz N, Sari R Ir J Med Sci. 2024; 193(3):1267-1273.

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A novel variant of fructose-1,6-bisphosphatase gene identified in an adult with newly diagnosed hepatitis C.

Fawdry H, Gorrigan R, Ramachandran R, Drake W JIMD Rep. 2022; 63(2):109-113.

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Hyperammonemia and lactic acidosis in adults: Differential diagnoses with a focus on inborn errors of metabolism.

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References

Xu K, Liu X, Zhang C, Wang Y, Li X, Wu Y . [Genetic diagnosis of fructose-1, 6-bisphosphatase deficiency: a case report]. Beijing Da Xue Xue Bao Yi Xue Ban. 2014; 46(5):681-5. View

Lebigot E, Brassier A, Zater M, Imanci D, Feillet F, Therond P . Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. J Inherit Metab Dis. 2015; 38(5):881-7. DOI: 10.1007/s10545-014-9804-6. View

Kikawa Y, Inuzuka M, Jin B, Kaji S, Yamamoto Y, Shigematsu Y . Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency. Biochem Biophys Res Commun. 1995; 210(3):797-804. DOI: 10.1006/bbrc.1995.1729. View