Emma Clement Selected Research

triokinase

1/2020

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

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Emma Clement Research Topics

Disease

5	Muscular Dystrophies (Muscular Dystrophy) 09/2011 - 10/2007
1	Neoplasms (Cancer) 11/2021
1	Rare Diseases (Rare Disease) 11/2021
1	Cataract (Cataracts) 01/2020
1	Galactosemias (Galactosemia) 01/2020
1	Microcephaly 01/2020
1	Megalencephaly 01/2020
1	Hemorrhage 01/2016
1	Malignant Hyperthermia 01/2016
1	Ophthalmoplegia (External Ophthalmoplegia) 09/2011
1	Muscular Diseases (Myopathy) 09/2011
1	Disease Progression 10/2009
1	Polymicrogyria 11/2008
1	Cysts 11/2008

Drug/Important Bio-Agent (IBA)

5	Dystroglycans (Dystroglycan)IBA 09/2011 - 10/2007
2	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2016 - 09/2011
2	protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA 10/2009 - 11/2008
1	triokinaseIBA 01/2020
1	FMN cyclaseIBA 01/2020
1	GalactitolIBA 01/2020
1	FructoseIBA 01/2020
1	SpectrinIBA 01/2020
1	RyanodineIBA 01/2016
1	Succinylcholine (Suxamethonium Chloride)FDA LinkGeneric 01/2016
1	Dantrolene (Dantrium)FDA LinkGeneric 01/2016
1	Anesthetics (Anesthetic Agents)IBA 01/2016

Therapy/Procedure

1	Genomic Medicine 11/2021