Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K)-Reference-Cited by-同舟云学术

Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K)

Published:2018-05-18 Issue:5 Volume:82 Page:309-317
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Bhai Pratibha¹,Bijarnia‐Mahay Sunita¹^ORCID,Puri Ratna D.¹,Saxena Renu¹,Gupta Deepti¹,Kotecha Udhaya¹,Sachdev Anil¹,Gupta Dhiren¹,Vyas Vyomesh¹,Agarwal Divya¹,Jain Vivek¹,Bansal Rajeev K.¹,Kumar Tapisha G.¹,Verma Ishwar Chander¹

Affiliation:

1. Institute of Medical Genetics Sir Ganga Ram Hospital Rajinder Nagar New Delhi India

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ahg.12256

Reference25 articles.

1. A method and server for predicting damaging missense mutations

2. Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency

3. Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis

4. FASTING HYPOGLYCÆMIA AND METABOLIC ACIDOSIS ASSOCIATED WITH DEFICIENCY OF HEPATIC FRUCTOSE-1,6-DIPHOSPHATASE ACTIVITY

5. Clinical and biochemical observations on three cases of fructose-1,6-diphosphatase deficiency

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