Sara Boenzi Selected Research

Sara Boenzi Research Topics

Disease

6	Methylmalonic acidemia 11/2020 - 05/2006
3	Metabolic Diseases (Metabolic Disease) 03/2022 - 08/2006
3	Peroxisomal Disorders (Peroxisomal Disorder) 07/2016 - 06/2003
3	Hyperammonemia 03/2015 - 07/2011
2	Wolman Disease (Wolman's Disease) 03/2022 - 03/2016
2	Cholestasis 01/2022 - 08/2020
2	Glycogen Storage Disease Type II (Pompe's Disease) 01/2021 - 01/2021
2	Homocystinuria 01/2014 - 04/2008
1	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome) 03/2022
1	Liver Failure 01/2022
1	Neonatal hemochromatosis 01/2022
1	Cerebrotendinous Xanthomatosis 01/2022
1	Rare Diseases (Rare Disease) 11/2021
1	Chronic Kidney Failure (Chronic Renal Failure) 11/2021
1	Cystinosis 11/2021
1	Absent corpus callosum cataract immunodeficiency 01/2021
1	Yunis Varon syndrome 01/2021
1	Glycogen Storage Disease Type IIb 01/2021
1	Propionic Acidemia 11/2020
1	Niemann-Pick Diseases (Niemann Pick Disease) 11/2018
1	VLCAD deficiency 06/2018
1	Kearns-Sayre Syndrome 06/2018
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2018
1	Sitosterolemia 03/2016
1	Smith-Lemli-Opitz Syndrome 03/2016
1	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 03/2016
1	Methylmalonic acidemia with homocystinuria 09/2015
1	Ataxia (Dyssynergia) 03/2015
1	Seizures (Absence Seizure) 03/2015
1	Intellectual Disability (Idiocy) 03/2015
1	Pyridoxine-dependent epilepsy 02/2015
1	Hepatic Encephalopathy 02/2015
1	Nephrolithiasis 02/2014
1	Cystinuria 02/2014
1	Pulmonary Hypertension 07/2013
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2012
1	Cutis Laxa 09/2012
1	Lysinuric Protein Intolerance 07/2012
1	Guanidinoacetate methyltransferase deficiency 07/2012
1	Gyrate Atrophy 07/2012
1	Citrullinemia 07/2012
1	Argininosuccinic Aciduria 07/2012
1	Tyrosinemias (Tyrosinemia) 01/2012
1	Hepatocellular Carcinoma (Hepatoma) 01/2012
1	Liver Neoplasms (Liver Cancer) 01/2012
1	Brain Diseases (Brain Disorder) 07/2011
1	Ketosis 07/2011
1	Menkes Kinky Hair Syndrome (Menkes Disease) 03/2009
1	Zellweger Syndrome (Zellweger's Syndrome) 12/2008
1	Infantile Refsum Disease (Infantile Phytanic Acid Storage Disease) 12/2008
1	Cataract (Cataracts) 08/2006

Drug/Important Bio-Agent (IBA)

6	Biomarkers (Surrogate Marker)IBA 01/2021 - 08/2006
6	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 09/2015 - 05/2006
3	Arginine (L-Arginine)FDA Link 03/2015 - 07/2012
2	Sterol Esterase (Hormone-Sensitive Lipase)IBA 03/2022 - 03/2016
2	Bile Acids and Salts (Bile Acids)IBA 01/2022 - 07/2016
2	Cystine (L-Cystine)IBA 11/2021 - 02/2014
2	GlycogenIBA 01/2021 - 01/2021
2	OxysterolsIBA 08/2020 - 03/2016
2	Fatty Acids (Saturated Fatty Acids)IBA 07/2016 - 06/2003
2	CitrullineIBA 03/2015 - 09/2012
2	Proteins (Proteins, Gene)FDA Link 03/2015 - 12/2008
2	HHH syndromeIBA 03/2015 - 07/2012
1	Sebelipase alfaIBA 03/2022
1	Disulfiram (Antabuse)FDA Link 11/2021
1	SymportersIBA 11/2021
1	GlucosidasesIBA 01/2021
1	maltoheptaoseIBA 01/2021
1	AcidsIBA 01/2021
1	EnzymesIBA 01/2021
1	2-methylcitric acidIBA 11/2020
1	7-ketocholesterolIBA 08/2020
1	Mitochondrial DNA (mtDNA)IBA 06/2018
1	CholesterolIBA 03/2016
1	AmmoniaIBA 03/2015
1	homocitrullineIBA 03/2015
1	A-factor (Streptomyces)IBA 02/2015
1	pipecolic acidIBA 02/2015
1	Branched-Chain Amino AcidsIBA 02/2014
1	NucleosidesIBA 02/2014
1	coenzyme Q10 (CoQ10)IBA 12/2012
1	OrnithineIBA 09/2012
1	Proline (L-Proline)FDA Link 09/2012
1	Oxidoreductases (Dehydrogenase)IBA 09/2012
1	Arginine-Glycine Amidinotransferase DeficiencyIBA 07/2012
1	Urea (Carbamide)FDA LinkGeneric 07/2012
1	FumaratesIBA 01/2012
1	fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA 01/2012
1	fumarylacetoacetateIBA 01/2012
1	succinylacetoneIBA 01/2012
1	Tyrosine (L-Tyrosine)FDA Link 01/2012
1	CreatineIBA 12/2011
1	Methylmalonyl-CoA MutaseIBA 07/2011
1	CopperIBA 03/2009
1	acylcarnitineIBA 12/2008

Therapy/Procedure

1	Liver Transplantation 01/2022
1	Transplantation 11/2020
1	Protein-Restricted Diet (Diet, Protein Restricted) 03/2015
1	Therapeutics 02/2014
1	Peritoneal Dialysis 07/2011