Judit García-Villoria Selected Research

Chronic Renal Insufficiency

11/2016

A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

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Judit García-Villoria Research Topics

Disease

4	Inborn Genetic Diseases (Disease, Hereditary) 10/2023 - 02/2013
3	Mitochondrial Diseases (Mitochondrial Disease) 03/2020 - 09/2005
2	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 09/2021 - 01/2019
2	Metabolic Diseases (Metabolic Disease) 01/2021 - 10/2015
2	Cystinosis 01/2015 - 02/2013
1	Peroxisomal Disorders (Peroxisomal Disorder) 01/2024
1	Phenylketonurias (Phenylketonuria) 12/2023
1	Lysinuric Protein Intolerance 10/2023
1	Vitamin B 12 Deficiency (Vitamin B12 Deficiency) 10/2023
1	Hearing Loss (Hearing Impairment) 10/2022
1	Retinal Dystrophies 10/2022
1	Purine Nucleoside Phosphorylase Deficiency 09/2021
1	Anemia 01/2021
1	Acute Intermittent Porphyria (Porphyria, Acute) 01/2021
1	Failure to Thrive 01/2021
1	Homocystinuria 01/2021
1	3-Methylglutaconic Aciduria 03/2020
1	Atrophy 03/2020
1	Muscular Diseases (Myopathy) 12/2018
1	Cataract (Cataracts) 12/2018
1	Scoliosis 12/2018
1	Chronic Renal Insufficiency 11/2016
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 11/2016
1	Ataxia (Dyssynergia) 11/2016
1	Short Bowel Syndrome 01/2016
1	Intestinal Failure 01/2016
1	Galactosemias (Galactosemia) 10/2015
1	Cerebrotendinous Xanthomatosis 10/2015
1	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 10/2015
1	Wolman Disease (Wolman's Disease) 10/2015
1	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2015
1	Lactic Acidosis 04/2014
1	Body Weight (Weight, Body) 01/2014
1	Medium chain acyl CoA dehydrogenase deficiency 07/2013
1	Ischemia 06/2010
1	Neuroblastoma 06/2010
1	Brain Ischemia (Cerebral Ischemia) 06/2010
1	Hypoxia (Hypoxemia) 06/2010
1	Congenital Disorders of Glycosylation 03/2009
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 02/2008
1	Intellectual Disability (Idiocy) 11/2007
1	Autistic Disorder (Autism) 11/2007

Drug/Important Bio-Agent (IBA)

2	Fatty Acids (Saturated Fatty Acids)IBA 01/2024 - 07/2013
2	Amino Acids FDA Link 12/2023 - 10/2023
2	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 07/2023 - 01/2021
2	Biomarkers (Surrogate Marker)IBA 03/2020 - 02/2013
2	Oxidoreductases (Dehydrogenase)IBA 04/2014 - 02/2008
2	Glucose (Dextrose)FDA LinkGeneric 01/2014 - 06/2010
2	CreatineIBA 02/2013 - 11/2007
1	Anti-Bacterial Agents (Antibiotics)IBA 10/2023
1	RNA (Ribonucleic Acid)IBA 10/2022
1	Purine-Nucleoside PhosphorylaseIBA 09/2021
1	Methionine (L-Methionine)FDA Link 01/2021
1	givosiranIBA 01/2021
1	heme arginateIBA 01/2021
1	HomocysteineIBA 01/2021
1	Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA 01/2021
1	T-Cell Antigen Receptors (T-Cell Receptor)IBA 01/2019
1	Flavin-Adenine Dinucleotide (FAD)IBA 12/2018
1	Levetiracetam (Keppra)FDA LinkGeneric 11/2016
1	Dihydrotachysterol (AT 10)IBA 11/2016
1	CitrullineIBA 01/2016
1	CholesterolIBA 10/2015
1	GlycolipidsIBA 10/2015
1	Sterol Esterase (Hormone-Sensitive Lipase)IBA 10/2015
1	Cysteamine (Mercaptamine)FDA Link 01/2015
1	Pyruvic Acid (Pyruvate)IBA 04/2014
1	Ketoglutaric Acids (Ketoglutaric Acid)IBA 04/2014
1	Thioctic Acid (Lipoic Acid)IBA 04/2014
1	Insulin (Novolin)FDA Link 01/2014
1	Triglycerides (Triacylglycerol)IBA 01/2014
1	Carnitine (L-Carnitine)FDA LinkGeneric 07/2013
1	Cystine (L-Cystine)IBA 02/2013
1	Transcription Factors (Transcription Factor)IBA 06/2010
1	Oxygen (Dioxygen)IBA 06/2010
1	Transferrin (beta 2 Transferrin)IBA 03/2009
1	Proteins (Proteins, Gene)FDA Link 11/2007
1	CreatinineIBA 11/2007
1	X-linked Creatine deficiencyIBA 11/2007
1	2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase (2-methyl-3-hydroxybutyryl-CoA dehydrogenase)IBA 09/2005
1	Isoleucine (L-Isoleucine)FDA Link 09/2005

Therapy/Procedure

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