Carla E M Hollak Selected Research

Enzyme Replacement Therapy

1/2020	Determinants of cerebral radiological progression in Fabry disease.
1/2020	Developments in the treatment of Fabry disease.
1/2020	Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
1/2019	Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I.
1/2017	Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.
1/2017	Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.
1/2016	Lung Transplantation in Gaucher Disease: A Learning Lesson in Trying to Avoid Both Scylla and Charybdis.
3/2015	Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
3/2015	Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy.
2/2015	Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.

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Carla E M Hollak Research Topics

Disease

40	Fabry Disease (Fabry's Disease) 08/2020 - 08/2003
35	Gaucher Disease (Gaucher's Disease) 01/2019 - 01/2004
8	Phenylketonurias (Phenylketonuria) 01/2022 - 02/2011
6	Disease Progression 01/2020 - 06/2011
5	Insulin Resistance 09/2016 - 03/2008
4	Liver Cirrhosis (Hepatic Cirrhosis) 01/2020 - 01/2013
4	Mucopolysaccharidosis I (Hurler Syndrome) 01/2019 - 05/2010
4	Pain (Aches) 10/2013 - 10/2002
3	Lysosomal Storage Diseases (Lysosomal Storage Disease) 11/2021 - 08/2010
3	Galactosemias (Galactosemia) 12/2020 - 01/2020
3	Renal Insufficiency (Renal Failure) 10/2010 - 08/2003
2	Tyrosinemias (Tyrosinemia) 01/2022 - 12/2019
2	Niemann-Pick Diseases (Niemann Pick Disease) 11/2021 - 01/2020
2	Rare Diseases (Rare Disease) 01/2021 - 04/2011
2	Fructose Intolerance (Intolerance, Fructose) 06/2020 - 11/2019
2	Inflammation (Inflammations) 01/2020 - 11/2016
2	Hypertension (High Blood Pressure) 01/2020 - 01/2017
2	Fibrosis (Cirrhosis) 01/2020 - 01/2017
2	Multiple Myeloma 01/2019 - 07/2007
2	Neoplasms (Cancer) 11/2017 - 04/2014
2	Type 2 Diabetes Mellitus (MODY) 09/2016 - 10/2010
2	Bone Diseases (Bone Disease) 01/2016 - 07/2008
2	Small Fiber Neuropathy 10/2013 - 06/2012
2	Neuralgia (Stump Neuralgia) 10/2013 - 06/2012
2	Hepatomegaly 08/2012 - 03/2008
1	Polypoidal Choroidal Vasculopathy 11/2022
1	Central Serous Chorioretinopathy 11/2022
1	Liver Cell Adenoma (Hepatocellular Adenoma) 08/2022
1	Hepatorenal form of glycogen storage disease 08/2022
1	Nondystrophic myotonia 01/2021
1	Brain Infarction 01/2020
1	Primary Ovarian Insufficiency 01/2020
1	Movement Disorders (Movement Disorder) 01/2020
1	Atrial Fibrillation 01/2020
1	Metabolic Diseases (Metabolic Disease) 12/2019
1	Non-alcoholic Fatty Liver Disease 11/2019
1	Type B Niemann-Pick Disease 04/2019
1	Cerebrotendinous Xanthomatosis 01/2019
1	Iron Overload 01/2018
1	Mucolipidoses (Sialidosis) 01/2018

Drug/Important Bio-Agent (IBA)

17	EnzymesIBA 12/2020 - 03/2005
10	GalactosidasesIBA 01/2020 - 07/2011
10	Biomarkers (Surrogate Marker)IBA 01/2020 - 01/2004
7	imiglucerase FDA Link 01/2016 - 02/2007
7	Glucosylceramidase (Glucocerebrosidase)IBA 10/2011 - 01/2004
7	Glucosylceramides (Glucocerebrosides)IBA 10/2011 - 01/2004
6	alpha-Galactosidase (Beano)IBA 01/2012 - 08/2003
6	chitotriosidaseIBA 03/2010 - 01/2004
5	Pharmaceutical PreparationsIBA 01/2021 - 06/2007
5	AntibodiesIBA 08/2020 - 10/2004
4	Phenylalanine (L-Phenylalanine)FDA Link 01/2022 - 02/2011
4	agalsidase alfaIBA 08/2020 - 07/2007
4	LipidsIBA 01/2020 - 03/2007
4	agalsidase beta FDA Link 01/2018 - 07/2007
4	IronIBA 11/2017 - 01/2013
4	globotriaosylceramide (globotriosylceramide)IBA 07/2014 - 10/2004
3	Triglycerides (Triacylglycerol)IBA 08/2022 - 11/2019
3	SphingomyelinsIBA 11/2021 - 04/2019
3	sapropterin (tetrahydrobiopterin)FDA Link 01/2018 - 07/2013
3	globotriaosyl lysosphingolipidIBA 01/2017 - 10/2011
3	Proteins (Proteins, Gene)FDA Link 01/2017 - 01/2010
3	Glucose (Dextrose)FDA LinkGeneric 09/2016 - 03/2007
2	Tyrosine (L-Tyrosine)FDA Link 01/2022 - 12/2019
2	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 11/2021 - 04/2019
2	AcidsIBA 11/2021 - 04/2019
2	galactose-1-phosphateIBA 12/2020 - 01/2020
2	FructoseIBA 06/2020 - 11/2019
2	CeramidesIBA 04/2019 - 03/2008
2	Essential Fatty AcidsIBA 01/2018 - 01/2017
2	MicronutrientsIBA 01/2018 - 01/2017
2	GlycosphingolipidsIBA 11/2017 - 03/2008
2	Ferritins (Ferritin)IBA 11/2016 - 01/2013
2	Insulin (Novolin)FDA Link 09/2016 - 03/2008
2	acylcarnitineIBA 09/2016 - 01/2016
2	Fatty Acids (Saturated Fatty Acids)IBA 09/2016 - 01/2016
2	miglustat (Zavesca)FDA Link 08/2013 - 09/2009
2	GlycosaminoglycansIBA 03/2013 - 05/2010
1	Verteporfin (Visudyne)FDA Link 11/2022
1	1-phenyl-3,3-dimethyltriazene (PDT)IBA 11/2022
1	Glucose-6-Phosphatase (Glucose 6 Phosphatase)IBA 08/2022
1	Lysergic Acid Diethylamide (LSD)IBA 11/2021
1	Mexiletine (Mexitil)FDA LinkGeneric 01/2021
1	Galactose (Galactopyranose)FDA LinkGeneric 12/2020
1	LDL CholesterolIBA 01/2020
1	sphingosine phosphorylcholineIBA 01/2020
1	CholesterolIBA 01/2020
1	migalastatIBA 01/2020
1	Polysaccharides (Glycans)IBA 01/2020
1	Immunoglobulin G (IgG)IBA 01/2020
1	Fructose-Bisphosphate Aldolase (Aldolase)IBA 11/2019
1	Phosphorylcholine (Phosphocholine)IBA 04/2019
1	Chenodeoxycholic Acid (Chenix)FDA Link 01/2019
1	SaposinsIBA 01/2019
1	ParaproteinsIBA 01/2019
1	taliglucerase alfaIBA 11/2018

Therapy/Procedure

31	Enzyme Replacement Therapy 01/2020 - 04/2006
14	Therapeutics 01/2020 - 02/2006
4	Splenectomy 01/2018 - 06/2013
4	Enzyme Therapy 08/2012 - 10/2004
2	Cell Transplantation 01/2016 - 05/2010