Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 May;88(5):505.
doi: 10.1007/s12098-021-03694-9. Epub 2021 Feb 12.

Novel Mutation with Fructose-1,6-Bisphosphatase Deficiency

Madhusudan Samprathi  1 , M Sridhar  2 , Rashmi Adiga  2 , Prakash Vemgal  2
Affiliations
Case Reports

Novel Mutation with Fructose-1,6-Bisphosphatase Deficiency

Madhusudan Samprathi et al. Indian J Pediatr. 2021 May.
No abstract available

PubMed Disclaimer

References

    1. Bijarnia-Mahay S, Bhatia S, Arora V. Fructose-1,6-Bisphosphatase deficiency. 2019 Dec 5. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
    1. Santer R, du Moulin M, Shahinyan T, et al. A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis. Orphanet J Rare Dis. 2016;11:44. - DOI
    1. Bhai P, Bijarnia-Mahay S, Puri RD, et al. Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: identification of a frequent variant (E281K). Ann Hum Genet. 2018;82:309–17. - DOI
    1. Lebigot E, Brassier A, Zater M, et al. Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients. J Inherit Metab Dis. 2015;38:881–7. - DOI

LinkOut - more resources