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Michela Semeraro 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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Michela Semeraro Research Topics

Disease

2Hypoglycemia (Reactive Hypoglycemia)
11/2018 - 01/2016
2Peroxisomal Disorders (Peroxisomal Disorder)
07/2016 - 02/2015
1Inborn Urea Cycle Disorders
01/2022
1Argininosuccinic Aciduria
01/2022
1Adult-onset citrullinemia type 2
01/2022
1Lysinuric Protein Intolerance
01/2022
1Due To LAD Deficiency Congenital Infantile Lactic Acidosis
01/2022
1Absent corpus callosum cataract immunodeficiency
01/2021
1Glycogen Storage Disease Type IIb
01/2021
1Ethylmalonic encephalopathy
01/2021
1Yunis Varon syndrome
01/2021
1Glycogen Storage Disease Type II (Pompe's Disease)
01/2021
1Leigh Disease (Leigh's Disease)
01/2021
1Cardiomyopathies (Cardiomyopathy)
01/2020
1Barth Syndrome
01/2020
1Niemann-Pick Diseases (Niemann Pick Disease)
11/2018
1Mitochondrial Diseases (Mitochondrial Disease)
11/2018
1Glycogen Storage Disease (Glycogenosis)
11/2018
1VLCAD deficiency
06/2018
1Kearns-Sayre Syndrome
06/2018
1Birth Weight (Birth Weights)
03/2018
1Hepatomegaly
01/2016
1Intrahepatic Cholestasis
01/2016
1Liver Diseases (Liver Disease)
01/2016
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
01/2016
1Hypertriglyceridemia
01/2016
1Fatty Liver
01/2016
1Fibrosis (Cirrhosis)
01/2016
1Pyridoxine-dependent epilepsy
02/2015
1Hepatic Encephalopathy
02/2015
1Body Weight Changes
10/2014
1Obesity
10/2014
1Pediatric Obesity
10/2014

Drug/Important Bio-Agent (IBA)

4Biomarkers (Surrogate Marker)IBA
01/2022 - 02/2015
3Fatty Acids (Saturated Fatty Acids)IBA
11/2018 - 07/2016
1CitrullineIBA
01/2022
1Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA
01/2022
1Urea (Carbamide)FDA LinkGeneric
01/2022
1maltoheptaoseIBA
01/2021
1GlycogenIBA
01/2021
1Valine (L-Valine)FDA Link
01/2021
13-methylglutaconic acidIBA
01/2020
1monolysocardiolipinIBA
01/2020
1Cardiolipins (Cardiolipin)IBA
01/2020
1CarbohydratesIBA
11/2018
1Mitochondrial DNA (mtDNA)IBA
06/2018
1LipidsIBA
03/2018
1Bile Acids and Salts (Bile Acids)IBA
07/2016
1Glycerolphosphate Dehydrogenase (Glycerol 3 Phosphate Dehydrogenase)IBA
01/2016
1EnzymesIBA
01/2016
1pipecolic acidIBA
02/2015
1A-factor (Streptomyces)IBA
02/2015
1Lipocalin-2IBA
10/2014
1Fatty Acid-Binding ProteinsIBA
10/2014
1AdipokinesIBA
10/2014

Therapy/Procedure

1Liver Transplantation
01/2021