Ans T van der Ploeg Selected Research

alpha-Glucosidases (Acid Maltase)

6/2022	Lentiviral gene therapy prevents anti-human acid α-glucosidase antibody formation in murine Pompe disease.
1/2022	Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
1/2021	Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
11/2019	Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
7/2019	Restoring the regenerative balance in neuromuscular disorders: satellite cell activation as therapeutic target in Pompe disease.
11/2018	Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.
1/2015	Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
9/2010	Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density.
4/2010	A randomized study of alglucosidase alfa in late-onset Pompe's disease.
8/2005	The natural course of non-classic Pompe's disease; a review of 225 published cases.

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Ans T van der Ploeg Research Topics

Disease

70	Glycogen Storage Disease Type II (Pompe's Disease) 12/2022 - 06/2003
10	Muscular Diseases (Myopathy) 07/2019 - 06/2003
6	Mucopolysaccharidoses 01/2021 - 03/2013
5	Disease Progression 11/2019 - 10/2008
5	Muscle Weakness 01/2018 - 02/2008
3	Phenylketonurias (Phenylketonuria) 01/2022 - 03/2015
3	Mucolipidoses (Sialidosis) 01/2021 - 01/2015
3	Fatigue 01/2021 - 06/2013
3	Mucopolysaccharidosis I (Hurler Syndrome) 06/2019 - 05/2010
2	Mucopolysaccharidosis II (Hunter Syndrome) 01/2022 - 10/2010
2	Anaphylaxis (Anaphylactic Shock) 12/2021 - 04/2010
2	Myocardial Infarction 12/2021 - 02/2016
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 01/2020
2	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy) 12/2020 - 04/2013
2	Neoplasms (Cancer) 09/2020 - 01/2020
2	Sickle Cell Anemia (Hemoglobin S Disease) 09/2020 - 01/2020
2	Thalassemia 09/2020 - 01/2020
2	Inborn Urea Cycle Disorders 11/2019 - 01/2019
2	Cardiomyopathies (Cardiomyopathy) 01/2018 - 03/2015
2	Hearing Loss (Hearing Impairment) 03/2012 - 10/2010
1	Tyrosinemias (Tyrosinemia) 01/2022
1	Stroke (Strokes) 12/2021
1	Headache (Headaches) 12/2021
1	Arthralgia (Joint Pain) 12/2021
1	Myalgia 12/2021
1	Nasopharyngitis 12/2021
1	Dysostoses 01/2021
1	Chronic Disease (Chronic Diseases) 01/2021
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2021
1	Blindness (Hysterical Blindness) 09/2020
1	Hemophilia A (Haemophilia) 09/2020
1	HIV Infections (HIV Infection) 01/2020
1	Retinal Dystrophies 01/2020
1	Hyperammonemia 11/2019
1	Methylmalonic acidemia 01/2019
1	Argininosuccinic Aciduria 01/2019
1	Citrullinemia 01/2019
1	Ornithine Carbamoyltransferase Deficiency Disease 01/2019
1	Propionic Acidemia 01/2019
1	Muscular Atrophy (Muscle Atrophy) 01/2019
1	Craniosynostoses (Craniosynostosis) 11/2018
1	Cardiomegaly (Heart Hypertrophy) 10/2018
1	Heart Failure 01/2018
1	Cardiac Arrhythmias (Arrythmia) 01/2018
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 11/2017

Drug/Important Bio-Agent (IBA)

30	AcidsIBA 06/2022 - 08/2005
22	GlucosidasesIBA 06/2022 - 12/2010
17	EnzymesIBA 06/2022 - 04/2010
15	GlycogenIBA 05/2022 - 10/2008
13	human GAA protein (Myozyme)FDA Link 01/2022 - 04/2010
11	alpha-Glucosidases (Acid Maltase)IBA 06/2022 - 06/2003
3	Pharmaceutical PreparationsIBA 12/2021 - 04/2010
3	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 06/2019
3	GlycosaminoglycansIBA 01/2021 - 04/2013
3	Messenger RNA (mRNA)IBA 01/2021 - 02/2016
2	Phenylalanine (L-Phenylalanine)FDA Link 01/2022 - 05/2017
2	AntibodiesIBA 01/2022 - 01/2022
2	mutalipocin IIIBA 01/2021 - 01/2015
2	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 12/2020 - 04/2013
2	Proteins (Proteins, Gene)FDA Link 09/2020 - 11/2019
2	HHH syndromeIBA 11/2019 - 01/2019
2	Arginine (L-Arginine)FDA Link 11/2019 - 01/2019
2	Ligases (Synthetase)IBA 11/2019 - 01/2019
2	Biomarkers (Surrogate Marker)IBA 01/2019 - 07/2012
2	Antisense OligonucleotidesIBA 01/2017 - 01/2016
2	RNA Precursors (Precursor, mRNA)IBA 01/2016 - 01/2015
2	Iduronidase (alpha-L-Iduronidase)IBA 08/2013 - 05/2010
1	Iduronic Acid (Iduronate)IBA 01/2022
1	Tyrosine (L-Tyrosine)FDA Link 01/2022
1	miglustat (Zavesca)FDA Link 12/2021
1	Chimeric Antigen ReceptorsIBA 09/2020
1	Fetal Hemoglobin (Hemoglobin F)IBA 09/2020
1	Antiviral Agents (Antivirals)IBA 01/2020
1	CitrullineIBA 11/2019
1	Amino Acids FDA Link 11/2019
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 11/2019
1	Leucine (L-Leucine)FDA Link 01/2019
1	Valine (L-Valine)FDA Link 01/2019
1	Branched-Chain Amino AcidsIBA 01/2019
1	MicroRNAs (MicroRNA)IBA 01/2019
1	Anesthetics (Anesthetic Agents)IBA 01/2018
1	Complementary DNA (cDNA)IBA 01/2018
1	DiureticsIBA 01/2018
1	Uridine Diphosphate (UDP)IBA 01/2018
1	sapropterin (tetrahydrobiopterin)FDA Link 05/2017

Therapy/Procedure

43	Enzyme Replacement Therapy 12/2022 - 06/2003
10	Therapeutics 06/2022 - 02/2008
5	Enzyme Therapy 11/2019 - 02/2008
2	Immunotherapy 09/2020 - 01/2020
2	Mechanical Ventilators (Ventilator) 05/2015 - 11/2013
1	Fontan Procedure (Fontan Operation) 01/2021
1	Cell- and Tissue-Based Therapy (Cell Therapy) 09/2020
1	Precision Medicine 11/2019
1	Protein-Restricted Diet (Diet, Protein Restricted) 01/2019
1	Sutures (Suture) 11/2018
1	Ventriculoperitoneal Shunt 11/2018
1	General Anesthesia 01/2018
1	Operative Surgical Procedures 01/2018
1	Immunomodulation 01/2018
1	Investigational Therapies (Experimental Therapy) 11/2017