Paula Garcia Selected Research

Glutamate-tRNA Ligase

1/2017

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.

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Paula Garcia Research Topics

Disease

3	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 01/2021 - 03/2014
3	Galactosemias (Galactosemia) 02/2018 - 01/2014
2	Drug Resistant Epilepsy 12/2019 - 12/2013
2	Seizures (Absence Seizure) 12/2019 - 02/2013
2	Epilepsy (Aura) 12/2019 - 01/2012
2	Maple Syrup Urine Disease 08/2010 - 06/2008
1	Neoplasms (Cancer) 12/2021
1	Phenylketonurias (Phenylketonuria) 01/2021
1	Mucopolysaccharidoses 01/2021
1	Gaucher Disease (Gaucher's Disease) 01/2019
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2019
1	Trifunctional Protein Deficiency With Myopathy And Neuropathy 02/2018
1	Methylmalonic acidemia 02/2018
1	Congenital Abnormalities (Deformity) 02/2018
1	Fructose Intolerance (Intolerance, Fructose) 02/2018
1	Tyrosinemias (Tyrosinemia) 02/2018
1	Infections 01/2018
1	Virus Diseases (Viral Diseases) 01/2018
1	Cutis Laxa 12/2017
1	Liver Diseases (Liver Disease) 12/2017
1	Psychomotor Disorders 12/2017
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2017
1	Leukoencephalopathies 01/2017
1	Disease Progression 01/2017
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2017
1	Breast Neoplasms (Breast Cancer) 01/2014
1	Hypesthesia (Numbness) 01/2014
1	Pyridoxine-dependent epilepsy 12/2013
1	Trimethylaminuria 09/2013
1	Failure to Thrive 02/2013
1	Nonketotic Hyperglycinemia 02/2013
1	Guanidinoacetate methyltransferase deficiency 11/2012
1	Ornithine Carbamoyltransferase Deficiency Disease 08/2012
1	Leigh Disease (Leigh's Disease) 08/2012
1	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2012
1	X-Linked Mental Retardation (Mental Retardation, X Linked) 01/2012
1	Glycogen Storage Disease (Glycogenosis) 05/2009
1	Glycogen Storage Disease Type IV (Andersen's Disease) 09/2007

Drug/Important Bio-Agent (IBA)

2	Biomarkers (Surrogate Marker)IBA 12/2021 - 12/2013
2	Amino Acids FDA Link 01/2021 - 02/2013
2	galsulfase FDA Link 01/2021 - 03/2014
2	Mitochondrial DNA (mtDNA)IBA 02/2018 - 08/2012
2	Lactic Acid (Lactate)FDA LinkGeneric 01/2017 - 05/2009
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2021
1	EnzymesIBA 01/2021
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2021
1	Lysergic Acid Diethylamide (LSD)IBA 01/2019
1	LipidsIBA 01/2019
1	AntigensIBA 01/2019
1	Galactosylceramides (Galactocerebrosides)IBA 01/2019
1	OrnithineIBA 02/2018
1	RNA (Ribonucleic Acid)IBA 01/2018
1	Adenosine Triphosphatases (ATPase)IBA 12/2017
1	Prorenin ReceptorIBA 12/2017
1	Glutamate-tRNA LigaseIBA 01/2017
1	Transferrin (beta 2 Transferrin)IBA 01/2017
1	UridineIBA 01/2017
1	galactose-1-phosphateIBA 01/2014
1	allysineIBA 12/2013
1	Pyridoxine (Pyridoxin)FDA LinkGeneric 12/2013
1	dimethylaniline monooxygenase (N-oxide forming) (flavin-containing monooxygenase)IBA 09/2013
1	OxidesIBA 09/2013
1	trimethylamineIBA 09/2013
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 08/2012
1	X-linked Creatine deficiencyIBA 01/2012
1	Branched-Chain Amino AcidsIBA 08/2010
1	Glycerol (Glycerine)FDA LinkGeneric 05/2009
1	Glucose (Dextrose)FDA LinkGeneric 05/2009
1	Citrate (si)-Synthase (Synthase, Citrate)IBA 05/2009
1	Oxidoreductases (Dehydrogenase)IBA 06/2008
1	GlycogenIBA 09/2007

Therapy/Procedure

2	Therapeutics 03/2014 - 11/2012
1	Enzyme Replacement Therapy 01/2021
1	Carbohydrate-Restricted Diet (Low Carbohydrate Diet) 12/2019
1	Ketogenic Diet 12/2019
1	Mastectomy (Mammectomy) 01/2014
1	Mammaplasty (Breast Reconstruction) 01/2014