Dr. Mohd. Faruq's lab

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Second report of Inherited Manganese metabolism disorder due to SLC39A14 mutation in the world
20/04/2018

Second report of Inherited Manganese metabolism disorder due to SLC39A14 mutation in the world

The Journal of Gene Medicine Volume 20, Issue 4 RESEARCH ARTICLE A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia Monica Juneja Department of Pediatrics, Maulana Azad Medical College, New Delhi, IndiaSearch for more papers by this author Uzma Shamim Gen...

This one is with Neurology team  Medical College, Alleppey
20/04/2018

This one is with Neurology team Medical College, Alleppey

Mucopolysaccharidoses (MPS) type III also termed as Sanfillipo syndrome, involves defect in enzymes required for degradation of heparan sulphate. We report a clinical case of MPS-III later followed by genetic investigation for MPS-III genes SGSH, NAGLU, HGSNAT and GNS. It allowed us to identify a no...

Faruq  Singh .K.Muhammad  MathurShaista Aditi Bharathram .V. Shaji .A. Kabeer  Menonhttps://www.sciencedirect.com/scienc...
20/04/2018

Faruq Singh .K.Muhammad Mathur
Shaista Aditi Bharathram .V. Shaji .A. Kabeer Menon

https://www.sciencedirect.com/science/article/pii/S2214426918300193

Mucopolysaccharidoses (MPS) type III also termed as Sanfillipo syndrome, involves defect in enzymes required for degradation of heparan sulphate. We report a clinical case of MPS-III later followed by genetic investigation for MPS-III genes SGSH, NAGLU, HGSNAT and GNS. It allowed us to identify a no...

Published under GOMEDFaruq Uzma aaradhana Monica Smitha Sakshi Aditi Bharathram Rashmi
20/04/2018

Published under GOMED
Faruq Uzma aaradhana Monica Smitha Sakshi Aditi Bharathram Rashmi


The Journal of Gene Medicine Volume 20, Issue 4 RESEARCH ARTICLE A novel mutation in SLC39A14 causing hypermanganesemia associated with infantile onset dystonia Monica Juneja Department of Pediatrics, Maulana Azad Medical College, New Delhi, IndiaSearch for more papers by this author Uzma Shamim Gen...

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