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M. van Scherpenzeel · SciRah

Researcher profile · Semantic Scholar

M. van Scherpenzeel

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M. van Scherpenzeel — researcher profile on SciRah

h-index: 24
Works: 41
Citations: 2,055

Most-cited papers

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
L. Tegtmeyer, S. Rust, M. van Scherpenzeel, B. Ng +46 more
2014New England Journal of Medicine239 citations Open access
Semantic Scholar
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
K. Carss, E. Stevens, A. Foley, S. Çırak +31 more
2013American Journal of Human Genetics219 citations Open access
Semantic Scholar
Galectin‐3‐Binding Glycomimetics that Strongly Reduce Bleomycin‐Induced Lung Fibrosis and Modulate Intracellular Glycan Recognition
T. Delaine, P. Collins, A. Mackinnon, G. Sharma +16 more
2016ChemBioChem174 citations Open access
Semantic Scholar
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
E. Jansen, S. Timal, M. Ryan, A. Ashikov +29 more
2016Nature Communications137 citations Open access
Semantic Scholar
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
T. Van Damme, T. Gardeitchik, M. Mohamed, Sergio Guerrero‐Castillo +37 more
2017American Journal of Human Genetics101 citations Open access
Semantic Scholar
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jos C. Jansen, S. Çırak, M. van Scherpenzeel, S. Timal +39 more
2016American Journal of Human Genetics95 citations Open access
Semantic Scholar
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jos C. Jansen, S. Timal, M. van Scherpenzeel, H. Michelakakis +22 more
2016American Journal of Human Genetics83 citations Open access
Semantic Scholar
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.
M. van Scherpenzeel, G. Steenbergen, E. Morava, R. Wevers +1 more
2015Translational Research: The Journal of Laboratory and Clinical Medicine78 citations
Semantic Scholar
Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.
Moniek Riemersma, D. Froese, Walinka van Tol, U. Engelke +15 more
2015Chemistry and Biology75 citations Open access
Semantic Scholar
ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG
Sun-Nie Y. Wong, T. Gadomski, M. van Scherpenzeel, T. Honzík +25 more
2017Genetics in Medicine70 citations Open access
Semantic Scholar
Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation
M. van Scherpenzeel, Esther Willems, D. Lefeber
2016Glycoconjugate Journal62 citations Open access
Semantic Scholar
Clinical glycomics for the diagnosis of congenital disorders of glycosylation
Nurulamin Abu Bakar, D. Lefeber, M. van Scherpenzeel
2018Journal of Inherited Metabolic Disease58 citations Open access
Semantic Scholar
Successful Liver Transplantation and Long-Term Follow-up in a Patient With MPI-CDG
M. Janssen, R. D. de Kleine, A. P. Van Den Berg, Y. Heijdra +3 more
2014Pediatrics57 citations Open access
Semantic Scholar
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
X. Wen, M. Tarailo-Graovac, K. Brand-Arzamendi, A. Willems +27 more
2018JCI Insight55 citations Open access
Semantic Scholar
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
M. van Scherpenzeel, S. Timal, D. Rymen, A. Hoischen +23 more
2014Brain : a journal of neurology53 citations Open access
Semantic Scholar
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect
M. E. de la Morena-Barrio, I. Martínez-Martínez, C. de Cos, E. Wypasek +10 more
2016Journal of Thrombosis and Haemostasis49 citations Open access
Semantic Scholar
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy
J. Martens, G. Berden, H. Bentlage, K. Coene +6 more
2018Journal of Inherited Metabolic Disease47 citations Open access
Semantic Scholar
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
A. Ashikov, Nurulamin Abu Bakar, X. Wen, M. Niemeijer +38 more
2018Human Molecular Genetics46 citations Open access
Semantic Scholar
PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.
N. Voermans, N. Preisler, Karen Lindhardt Madsen, M. C. Janssen +9 more
2017Neuromuscular Disorders43 citations
Semantic Scholar
Synthesis and Evaluation of New Thiodigalactoside‐Based Chemical Probes to Label Galectin‐3
M. van Scherpenzeel, Ed E. Moret, Lluís Ballell, R. Liskamp +3 more
2009ChemBioChem41 citations
Semantic Scholar
Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis.
A. Willems, Lingbo Sun, M. A. Schulz, Wei-Hua Tian +6 more
2019Biochimica et Biophysica Acta - General Subjects30 citations
Semantic Scholar
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype
Z. Iqbal, M. Shahzad, L. Vissers, M. van Scherpenzeel +10 more
2012European Journal of Human Genetics30 citations Open access
Semantic Scholar
Combined sialic acid and histone deacetylase (HDAC) inhibitor treatment up-regulates the neuroblastoma antigen GD2
R. V. D. van den Bijgaart, M. Kroesen, M. Wassink, Ingrid C. Brok +10 more
2019Journal of Biological Chemistry27 citations Open access
Semantic Scholar
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
Nurulamin Abu Bakar, N. Voermans, T. Marquardt, C. Thiel +10 more
2018Translational Research: The Journal of Laboratory and Clinical Medicine24 citations Open access
Semantic Scholar
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1
Nurulamin Abu Bakar, A. Ashikov, J. M. Brum, R. Smeets +19 more
2022Journal of Inherited Metabolic Disease23 citations Open access
Semantic Scholar
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Federica Conte, E. Morava, N. A. Bakar, S. Wortmann +15 more
2020Molecular Genetics and Metabolism23 citations Open access
Semantic Scholar
Fast, robust and high-resolution glycosylation profiling of intact monoclonal IgG antibodies using nanoLC-chip-QTOF.
J. Jacobs, R. Wevers, D. Lefeber, M. van Scherpenzeel
2016Clinica chimica acta; international journal of clinical chemistry20 citations
Semantic Scholar
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis
Federica Conte, A. Ashikov, R. Mijdam, Eline G. P. van de Ven +13 more
2023International Journal of Molecular Sciences16 citations Open access
Semantic Scholar
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy.
Walinka van Tol, M. van Scherpenzeel, M. Alsady, Moniek Riemersma +12 more
2019Clinical Chemistry14 citations Open access
Semantic Scholar
Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells
Federica Conte, M. Noga, M. van Scherpenzeel, Raisa Veizaj +8 more
2023Cells10 citations Open access
Semantic Scholar
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
T. Van Damme, T. Gardeitchik, M. Mohamed, Sergio Guerrero‐Castillo +37 more
2020American Journal of Human Genetics10 citations Open access
Semantic Scholar
Protein enrichment by capture-release based on strain-promoted cycloaddition of azide with bicyclononyne (BCN).
R. Temming, M. van Scherpenzeel, E. Te Brinke, Sanne Schoffelen +3 more
2012Bioorganic & Medicinal Chemistry10 citations
Semantic Scholar
Examining the Distribution and Impact of Single-Nucleotide Polymorphisms in the Capsular Locus of Streptococcus pneumoniae Serotype 19A
D. Arends, W. Miellet, J. Langereis, T. Ederveen +10 more
2021Infection and Immunity9 citations Open access
Semantic Scholar
Screening for abnormal glycosylation in a cohort of adult liver disease patients
Jos C. Jansen, B. van Hoek, H. Metselaar, A. P. van den Berg +5 more
2020Journal of Inherited Metabolic Disease9 citations Open access
Semantic Scholar
Dynamic analysis of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs
M. van Scherpenzeel, Federica Conte, C. Büll, A. Ashikov +15 more
20208 citations Open access
Semantic Scholar
Structure–Activity Relationship of Fluorinated Sialic Acid Inhibitors for Bacterial Sialylation
S. Moons, Emiel Rossing, Jurriaan J A Heming, Mathilde A. C. H. Janssen +5 more
2021Bioconjugate chemistry7 citations Open access
Semantic Scholar
PGM1-DEFICIENCY WITH ABNORMAL PROTEIN GLYCOSYLATION; EASY DIAGNOSIS AND DIETARY INTERVENTION
M. van Scherpenzeel, S. Timal, K. Raymond, M. Adamowicz +6 more
20123 citations
Semantic Scholar
Streptococcus pneumoniae adaptation to nutrient deprivation and immune modulation drives upper respiratory tract colonization
Daan W. Arends, K. Surmann, Lucille F. van Beek, Robert S. Jansen +7 more
2026The ISME Journal0 citations Open access
Semantic Scholar
Glycomics as an Innovative Approach for Personalized Medicine
S. Holst, N. A. Bakar, M. van Scherpenzeel, M. Wuhrer +1 more
2019Handbook of Biomarkers and Precision Medicine0 citations
Semantic Scholar
NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects
Jos C. Jansen, D. Wolthuis, M. van Scherpenzeel, V. Ratziu +2 more
2018Cellular and Molecular Gastroenterology and Hepatology0 citations Open access
Semantic Scholar
Carbohydrate-based chemical probes for the proteomic profiling of glucosidases and the emerging cancer marker galectin-3
M. van Scherpenzeel
20070 citations
Semantic Scholar

Frequent co-authors

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D. Lefeber×35
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D. Lefeber — researcher profile on SciRah
E. Morava×13
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R. Wevers×12
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R. Wevers — researcher profile on SciRah
A. Ashikov×10
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K. Huijben — researcher profile on SciRah

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S. Timal — researcher profile on SciRah

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J. Veltman — researcher profile on SciRah

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A. Hoischen — researcher profile on SciRah

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K. Raymond — researcher profile on SciRah

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C. Thiel — researcher profile on SciRah

Nurulamin Abu Bakar×5

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Nurulamin Abu Bakar — researcher profile on SciRah

Federica Conte×5

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Federica Conte — researcher profile on SciRah