Dimitar Gavrilov Selected Research

Metachromatic Leukodystrophy due to Saposin B Deficiency

1/2020

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.

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Dimitar Gavrilov Research Topics

Disease

1	Glycogen Storage Disease XIV 01/2021
1	Mucopolysaccharidosis I (Hurler Syndrome) 01/2020
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2020
1	Mucolipidoses (Sialidosis) 01/2020
1	Metachromatic Leukodystrophy due to Saposin B Deficiency 01/2020
1	Vomiting 01/2018
1	Acidosis 01/2018
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2018
1	Hepatomegaly 01/2018
1	Hypoglycemia (Reactive Hypoglycemia) 01/2018
1	Ketosis 01/2018
1	Hypertriglyceridemia 01/2018
1	Lethargy 01/2018
1	Glutamate formiminotransferase deficiency 11/2017
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 01/2017
1	Lymphopenia (Lymphocytopenia) 01/2017
1	Methylenetetrahydrofolate reductase deficiency 02/2016
1	Globoid Cell Leukodystrophy (Krabbe Disease) 09/2015
1	Disease Progression 09/2015
1	Friedreich Ataxia (Friedreich's Ataxia) 10/2013
1	Smith-Lemli-Opitz Syndrome 09/2013
1	Medium chain acyl CoA dehydrogenase deficiency 07/2010
1	Alkaptonuria 05/2010

Drug/Important Bio-Agent (IBA)

3	Biomarkers (Surrogate Marker)IBA 01/2020 - 01/2018
2	EnzymesIBA 01/2020 - 11/2017
1	GlycogenIBA 01/2021
1	GlycosaminoglycansIBA 01/2020
1	Sulfoglycosphingolipids (Sulfatides)IBA 01/2020
1	Hydroxymethylglutaryl-CoA SynthaseIBA 01/2018
1	HDL CholesterolIBA 01/2018
1	formiminotetrahydrofolate cyclodeaminaseIBA 11/2017
1	Formiminoglutamic Acid (FIGLU)IBA 11/2017
1	Folic Acid (Vitamin M)FDA LinkGeneric 11/2017
1	Histidine (L-Histidine)FDA Link 11/2017
1	Methionine (L-Methionine)FDA Link 02/2016
1	Psychosine (Galactosylsphingosine)IBA 09/2015
1	GalactosylceramidaseIBA 09/2015
1	FrataxinIBA 10/2013
1	Aripiprazole (Abilify)FDA Link 09/2013
1	Trazodone (Trittico)FDA LinkGeneric 09/2013
1	7-dehydrocholesterolIBA 09/2013
1	Fatty Acids (Saturated Fatty Acids)IBA 07/2010
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 07/2010
1	CreatinineIBA 05/2010

Therapy/Procedure

1	Cell Transplantation 01/2017
1	Hematopoietic Stem Cell Transplantation 09/2015