Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene

Author:

Dalili Setila,Sedighi Pirsaraei Nasrin,Sharifi Ameneh,Pouryousef Alireza,Aghaee Fatemeh,Bayat Reza,Ghavami Babak,Rabbani Bahareh,Mahdieh Nejat

Funder

Guilan University of Medical Sciences

Publisher

Elsevier BV

Reference46 articles.

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2. Fructose 1, 6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients;Lebigot;Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism,2015

3. Disorders of gluconeogenesis;Van den Berghe;J. Inherit. Metab. Dis.,1996

4. A Chinese adult patient with fructose 1, 6-bisphosphatase deficiency;Lu;Chin. Med. J.,2017

5. Inborn errors of fructose metabolism. What can we learn from them?;Tran;Nutrients,2017

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