Carmen Gómez-Lado Selected Research

Adenosine monophosphate deaminase deficiency

6/2011

Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.

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Carmen Gómez-Lado Research Topics

Disease

2	Alopecia (Baldness) 12/2011 - 01/2010
2	Hypothyroidism 01/2011 - 12/2007
1	Rhabdomyolysis 06/2011
1	Myalgia 06/2011
1	Muscle Weakness 06/2011
1	Muscle Hypotonia (Hypotonia) 06/2011
1	Congenital Hypothyroidism (Cretinism) 01/2011
1	Brain Diseases (Brain Disorder) 02/2010
1	Hyperammonemia 01/2010
1	Muscular Atrophy (Muscle Atrophy) 01/2007
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2007
1	Hypertrophy 01/2007
1	Myotonia Congenita (Thomsen Disease) 01/2007
1	Prader-Willi Syndrome (Syndrome, Prader-Willi) 01/2007
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 11/2006
1	Disease Progression 11/2006
1	Schmid-Fraccaro syndrome 11/2006
1	Duane Retraction Syndrome (Duane Syndrome) 11/2006

Drug/Important Bio-Agent (IBA)

2	Biotin (Vitamin H)FDA Link 12/2011 - 01/2010
2	Valproic Acid (Depakote)FDA LinkGeneric 12/2011 - 01/2010
1	BiotinidaseIBA 12/2011
1	ZincIBA 12/2011
1	Adenosine Monophosphate (AMP)IBA 06/2011
1	Adenosine monophosphate deaminase deficiencyIBA 06/2011
1	AMP Deaminase (Myoadenylate Deaminase)IBA 06/2011
1	NucleotidesIBA 06/2011
1	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 01/2011
1	SteroidsIBA 02/2010
1	AntibodiesIBA 02/2010
1	Anticonvulsants (Antiepileptic Drugs)IBA 12/2007
1	MyostatinIBA 01/2007
1	Genetic Markers (Genetic Marker)IBA 11/2006
1	Allopurinol (Remid)FDA LinkGeneric 11/2006
1	Xanthine OxidaseIBA 11/2006

Therapy/Procedure

2	Oral Administration 12/2011 - 01/2010
1	Therapeutics 12/2007