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Judit García-Villoria Selected Research

heme arginate

1/2021Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.

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Judit García-Villoria Research Topics

Disease

3Mitochondrial Diseases (Mitochondrial Disease)
03/2020 - 09/2005
2Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
09/2021 - 01/2019
2Inborn Genetic Diseases (Disease, Hereditary)
01/2021 - 02/2013
2Metabolic Diseases (Metabolic Disease)
01/2021 - 10/2015
2Cystinosis
01/2015 - 02/2013
1Purine Nucleoside Phosphorylase Deficiency
09/2021
1Acute Intermittent Porphyria (Porphyria, Acute)
01/2021
1Anemia
01/2021
1Failure to Thrive
01/2021
1Homocystinuria
01/2021
13-Methylglutaconic Aciduria
03/2020
1Atrophy
03/2020
1Cataract (Cataracts)
12/2018
1Scoliosis
12/2018
1Muscular Diseases (Myopathy)
12/2018
1Chronic Renal Insufficiency
11/2016
1Ataxia (Dyssynergia)
11/2016
1Myoclonic Epilepsies (Myoclonic Encephalopathy)
11/2016
1Short Bowel Syndrome
01/2016
1Intestinal Failure
01/2016
1Galactosemias (Galactosemia)
10/2015
1Wolman Disease (Wolman's Disease)
10/2015
1Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
10/2015
1Neurodegenerative Diseases (Neurodegenerative Disease)
10/2015
1Cerebrotendinous Xanthomatosis
10/2015
1Lactic Acidosis
04/2014
1Body Weight (Weight, Body)
01/2014
1Medium chain acyl CoA dehydrogenase deficiency
07/2013
1Hypoxia (Hypoxemia)
06/2010
1Neuroblastoma
06/2010
1Brain Ischemia (Cerebral Ischemia)
06/2010
1Ischemia
06/2010
1Congenital Disorders of Glycosylation
03/2009
1Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
02/2008
1Autistic Disorder (Autism)
11/2007
1Intellectual Disability (Idiocy)
11/2007

Drug/Important Bio-Agent (IBA)

2Biomarkers (Surrogate Marker)IBA
03/2020 - 02/2013
2Oxidoreductases (Dehydrogenase)IBA
04/2014 - 02/2008
2Glucose (Dextrose)FDA LinkGeneric
01/2014 - 06/2010
2CreatineIBA
02/2013 - 11/2007
1Purine-Nucleoside PhosphorylaseIBA
09/2021
1heme arginateIBA
01/2021
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
01/2021
1givosiranIBA
01/2021
1Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA
01/2021
1Methionine (L-Methionine)FDA Link
01/2021
1HomocysteineIBA
01/2021
1T-Cell Antigen Receptors (T-Cell Receptor)IBA
01/2019
1Flavin-Adenine Dinucleotide (FAD)IBA
12/2018
1Levetiracetam (Keppra)FDA LinkGeneric
11/2016
1Dihydrotachysterol (AT 10)IBA
11/2016
1CitrullineIBA
01/2016
1GlycolipidsIBA
10/2015
1CholesterolIBA
10/2015
1Sterol Esterase (Hormone-Sensitive Lipase)IBA
10/2015
1Cysteamine (Mercaptamine)FDA Link
01/2015
1Ketoglutaric Acids (Ketoglutaric Acid)IBA
04/2014
1Thioctic Acid (Lipoic Acid)IBA
04/2014
1Pyruvic Acid (Pyruvate)IBA
04/2014
1Insulin (Novolin)FDA Link
01/2014
1Triglycerides (Triacylglycerol)IBA
01/2014
1Fatty Acids (Saturated Fatty Acids)IBA
07/2013
1Carnitine (L-Carnitine)FDA LinkGeneric
07/2013
1Cystine (L-Cystine)IBA
02/2013
1Transcription Factors (Transcription Factor)IBA
06/2010
1Oxygen (Dioxygen)IBA
06/2010
1Transferrin (beta 2 Transferrin)IBA
03/2009
1CreatinineIBA
11/2007
1Proteins (Proteins, Gene)FDA Link
11/2007
1X-linked Creatine deficiencyIBA
11/2007
12-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase (2-methyl-3-hydroxybutyryl-CoA dehydrogenase)IBA
09/2005
1Isoleucine (L-Isoleucine)FDA Link
09/2005

Therapy/Procedure

1Kidney Transplantation
11/2016
1Home Parenteral Nutrition
01/2016
1Parenteral Nutrition
01/2016
1Patient Transfer (Patient Dumping)
01/2015
1Renal Replacement Therapy (Therapies, Renal Replacement)
01/2015