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Marianne Hoogeveen‐Westerveld | Researchclopedia

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Marianne Hoogeveen‐Westerveld

81

Works

2,698

Citations

32

h-index

47

i10-index

Research Topics

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Tuberous Sclerosis Complex Research

Affiliations

Boston Children's Hospital2014–2014

Erasmus MC2005–2025

Maine Farmland Trust2019–2019

Erasmus MC - Sophia Children’s Hospital2014–2014

Rotterdam University of Applied Sciences1997–1997

Top Works

The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo

Edwin Mientjes,Ingeborg M. Nieuwenhuizen,et al.

2005290 citations

Carbohydrate Chemistry and Synthesis

Trypanosoma species research and implications

Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.

L. H. Hoefsloot,Marianne Hoogeveen‐Westerveld,et al.

1988174 citations

The genotype–phenotype correlation in Pompe disease

Marian A. Kroos,Marianne Hoogeveen‐Westerveld,et al.

2012132 citations

Characterization of the human lysosomal α-glucosidase gene

Lies H. Hoefsloot,Marianne Hoogeveen‐Westerveld,et al.

1990130 citations

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

Carin M. Van Gelder,Marianne Hoogeveen‐Westerveld,et al.

2014106 citations

Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex

Marianne Hoogeveen‐Westerveld,Marjolein Wentink,et al.

201192 citations

Effects of a higher dose of alglucosidase alfa on ventilator‐free survival and motor outcome in classic infantile Pompe disease: an open‐label single‐center study

Carin M. Van Gelder,Esther Poelman,et al.

201684 citations

Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

Mark Nellist,Rutger W. W. Brouwer,et al.

201582 citations

TORC1‐dependent epilepsy caused by acute biallelic <i>Tsc1</i> deletion in adult mice

Elisabeth Abs,Susanna M. I. Goorden,et al.

201379 citations