A rare case of fatty acyl‐CoA reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype
Author:
Affiliation:
1. Rainbow Children Hospital Hyderabad India
2. Sandor Speciality Diagnostics Pvt Ltd Hyderabad India
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13934
Reference4 articles.
1. A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency
2. Topogenesis and Homeostasis of Fatty Acyl-CoA Reductase 1
3. The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
4. Peroxisomal Disorders
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