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Sara Boenzi Selected Research

Yunis Varon syndrome

1/2021A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

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Sara Boenzi Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

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

Therapy/Procedure

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