C B Item Selected Research

glycocyamine

8/2006	GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
9/2005	Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
5/2004	Characterization of seven novel mutations in seven patients with GAMT deficiency.
11/2001	Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.

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C B Item Research Topics

Disease

4	Guanidinoacetate methyltransferase deficiency 06/2007 - 05/2004
4	Intellectual Disability (Idiocy) 08/2006 - 11/2001
3	Epilepsy (Aura) 08/2006 - 05/2004
1	Propionic Acidemia 04/2019
1	Hypoxia (Hypoxemia) 04/2019
1	Language Development Disorders (Semantic-Pragmatic Disorder) 06/2007
1	Movement Disorders (Movement Disorder) 08/2006
1	Seizures (Absence Seizure) 08/2006
1	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset) 04/2001

Drug/Important Bio-Agent (IBA)

5	CreatineIBA 06/2007 - 11/2001
4	glycocyamineIBA 08/2006 - 11/2001
2	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA 09/2005 - 05/2004
1	AmmoniaIBA 04/2019
1	Reactive Oxygen Species (Oxygen Radicals)IBA 04/2019
1	propionylcarnitineIBA 04/2019
1	MethyltransferasesIBA 08/2006
1	Arginine-Glycine Amidinotransferase DeficiencyIBA 11/2001
1	BiotinidaseIBA 04/2001