Anna Tylki-Szymańska Selected Research

Wolman Disease (Wolman's Disease)

1/2021	Disturbance of lipid homeostasis in lysosomal lipase deficiency – pathomechanism, diagnosis and treatment
6/2020	Progressive macrophage accumulation in lysosomal acid lipase deficiency.
10/2018	Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.
10/2018	Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa.
1/2014	Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease.

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Anna Tylki-Szymańska Research Topics

Disease

13	Mucopolysaccharidoses 10/2022 - 07/2006
10	Mucopolysaccharidosis II (Hunter Syndrome) 02/2022 - 09/2011
10	Gaucher Disease (Gaucher's Disease) 02/2021 - 09/2004
9	Lysosomal Storage Diseases (Lysosomal Storage Disease) 12/2021 - 01/2011
8	Congenital Disorders of Glycosylation 08/2021 - 01/2020
6	Fabry Disease (Fabry's Disease) 05/2020 - 11/2009
6	Metabolic Diseases (Metabolic Disease) 09/2013 - 02/2008
5	Disease Progression 01/2022 - 01/2014
5	Inborn Genetic Diseases (Disease, Hereditary) 03/2021 - 01/2011
5	Wolman Disease (Wolman's Disease) 01/2021 - 01/2014
5	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 06/2015 - 01/2012
4	Mucopolysaccharidosis I (Hurler Syndrome) 12/2018 - 08/2007
3	Mucopolysaccharidosis IV (Morquio Syndrome) 10/2022 - 05/2019
3	Niemann-Pick Diseases (Niemann Pick Disease) 08/2020 - 01/2007
3	Hyperkinesis 01/2020 - 01/2020
3	Hepatomegaly 10/2018 - 08/2012
2	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 02/2021 - 01/2007
2	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 02/2021 - 09/2013
2	Failure to Thrive 05/2020 - 01/2014
2	Glycogen Storage Disease Type II (Pompe's Disease) 05/2020 - 02/2011
2	Sensorineural Hearing Loss 05/2020 - 12/2015
2	Developmental Disabilities (Developmental Disability) 01/2020 - 01/2020
2	NGLY1 deficiency 01/2020 - 01/2020
2	Cholesterol Ester Storage Disease 10/2018 - 01/2014
2	Seizures (Absence Seizure) 12/2015 - 05/2012
2	Peroxisomal Disorders (Peroxisomal Disorder) 01/2014 - 01/2009
2	Splenomegaly 01/2014 - 08/2012
2	Thrombocytopenia (Thrombopenia) 08/2012 - 09/2004
2	Acidosis 08/2012 - 05/2012
2	Lipidoses 01/2011 - 01/2011
1	Arthrogryposis 10/2021
1	Ichthyosis (Xeroderma) 10/2021
1	Body Weight (Weight, Body) 09/2021
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 09/2021
1	Transaldolase Deficiency 08/2021
1	End Stage Liver Disease 08/2021
1	GM2 Gangliosidoses (GM2 Gangliosidosis) 02/2021
1	isovaleric Acidemia 09/2020
1	Neonatal-onset citrullinemia type 2 05/2020
1	Hypoalbuminemia 05/2020
1	Obstructive Jaundice (Cholestatic Jaundice) 05/2020
1	Exocrine Pancreatic Insufficiency 05/2020
1	Hyperopia (Hypermetropia) 05/2020
1	Infections 05/2020
1	Inflammation (Inflammations) 05/2020
1	Proteinuria 05/2020
1	Fibrosis (Cirrhosis) 01/2020
1	Liver Diseases (Liver Disease) 01/2020
1	Glutaric Acidemia I 01/2019

Drug/Important Bio-Agent (IBA)

18	EnzymesIBA 10/2022 - 03/2002
9	LipidsIBA 08/2021 - 01/2007
8	GlycosaminoglycansIBA 01/2022 - 07/2006
6	Proteins (Proteins, Gene)FDA Link 08/2021 - 09/2004
5	Transaminases (Aminotransferases)IBA 01/2020 - 01/2014
4	idursulfase FDA Link 02/2022 - 01/2014
4	Transferrin (beta 2 Transferrin)IBA 09/2021 - 01/2020
4	Triglycerides (Triacylglycerol)IBA 01/2021 - 01/2014
4	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 06/2015 - 02/2012
3	CholesterolIBA 12/2021 - 01/2007
3	Protein Isoforms (Isoforms)IBA 03/2021 - 09/2013
3	Lysergic Acid Diethylamide (LSD)IBA 02/2021 - 01/2011
3	Polysaccharides (Glycans)IBA 01/2021 - 01/2021
3	Cholesterol Esters (Cholesteryl Esters)IBA 01/2021 - 01/2014
3	Glucosylceramides (Glucocerebrosides)IBA 01/2020 - 12/2011
3	Glucosylceramidase (Glucocerebrosidase)IBA 01/2018 - 10/2004
3	Dermatan SulfateIBA 06/2015 - 09/2011
2	Dipeptidyl Peptidase 4 (Dipeptidyl Peptidase IV)IBA 02/2021 - 04/2016
2	Sebelipase alfaIBA 01/2021 - 10/2018
2	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 08/2020 - 01/2019
2	Sterol Esterase (Hormone-Sensitive Lipase)IBA 06/2020 - 01/2014
2	sphingosyl beta-glucosideIBA 01/2020 - 01/2018
2	Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseIBA 01/2020 - 01/2020
2	GalactosidasesIBA 01/2019 - 01/2018
2	HDL CholesterolIBA 10/2018 - 01/2014
2	LDL CholesterolIBA 10/2018 - 01/2014
2	AcidsIBA 12/2015 - 02/2011
2	Adenylosuccinate lyase deficiencyIBA 02/2014 - 05/2012
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2014 - 01/2009
2	IsoflavonesIBA 09/2011 - 07/2006
1	Collodion (Nitrocellulose)IBA 10/2021
1	Congenital disorder of glycosylation type 1AIBA 09/2021
1	NucleotidesIBA 04/2021
1	OligosaccharidesIBA 03/2021
1	DolicholsIBA 03/2021
1	Glycoproteins (Glycoprotein)IBA 03/2021
1	CeroidIBA 02/2021
1	Lipase (Acid Lipase)FDA Link 01/2021
1	Leucine (L-Leucine)FDA Link 09/2020
1	SphingomyelinsIBA 08/2020
1	CitrullineIBA 05/2020
1	Amino Acids FDA Link 05/2020
1	Periodic AcidIBA 01/2020
1	GalactosamineIBA 05/2019
1	Keratan SulfateIBA 05/2019
1	globotriaosylceramide (globotriosylceramide)IBA 01/2019
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2019

Therapy/Procedure

20	Enzyme Replacement Therapy 10/2022 - 10/2004
8	Therapeutics 12/2018 - 07/2006
2	Liver Transplantation 08/2021 - 01/2020
1	Duration of Therapy 05/2020