Irene Ceballos-Picot Selected Research

Deafness (Deaf Mutism)

3/2013

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.

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Irene Ceballos-Picot Research Topics

Disease

6	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 01/2021 - 05/2006
2	Intellectual Disability (Idiocy) 03/2013 - 05/2006
2	Neuroblastoma 07/2009 - 05/2007
1	Neoplasms (Cancer) 10/2018
1	Kidney Diseases (Kidney Disease) 10/2018
1	Chronic Renal Insufficiency 10/2018
1	Nephrolithiasis 10/2018
1	Ichthyosis (Xeroderma) 03/2013
1	Intrahepatic Cholestasis 03/2013
1	Deafness (Deaf Mutism) 03/2013
1	Dystonia (Limb Dystonia) 03/2010
1	Neurodevelopmental Disorders 05/2007

Drug/Important Bio-Agent (IBA)

6	Hypoxanthine Phosphoribosyltransferase (Hypoxanthine Guanine Phosphoribosyltransferase)IBA 01/2021 - 05/2006
5	purineIBA 01/2021 - 05/2006
5	EnzymesIBA 01/2021 - 05/2006
3	Uric Acid (Urate)IBA 10/2018 - 05/2006
2	Adenine PhosphoribosyltransferaseIBA 10/2018 - 10/2018
2	TransferasesIBA 10/2018 - 07/2009
1	Xanthine DehydrogenaseIBA 10/2018
1	PurinesIBA 10/2018
1	Pharmaceutical PreparationsIBA 10/2018
1	Adenine phosphoribosyltransferase deficiencyIBA 10/2018
1	Adenine FDA LinkGeneric 10/2018
1	2,8-dihydroxyadenineIBA 10/2018
1	Familial apoceruloplasmin deficiencyIBA 03/2013
1	ClathrinIBA 03/2013
1	CopperIBA 03/2013
1	Proteins (Proteins, Gene)FDA Link 03/2013
1	HypoxanthineIBA 07/2009
1	GuanineIBA 07/2009
1	OligonucleotidesIBA 05/2007