Concepedia

Machtelt G. Bouwman

MG

Statistics

Publications

8

Citations

597

H-Index

8

Active since

2010

Affiliations

Amsterdam UMC Location University of Amsterdam(Current)

University of Amsterdam

Amsterdam University Medical Centers

Sphinx (Netherlands)

Machtelt G. Bouwman is an author at Amsterdam UMC Location University of Amsterdam specializing in medicine, pediatrics, and pathology.

Top concepts

Publications per year

2010–2013

8

Publications

8

Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease

Saskia M. Rombach, Natashe Lemos Dekker, Machtelt G. Bouwman et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2010 · 228 citations · Full text

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Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

Saskia M. Rombach, Bouwien E. Smid, Machtelt G. Bouwman et al. · Orphanet Journal of Rare Diseases · 2013 · 166 citations · Full text

'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases

Machtelt G. Bouwman, Q. Teunissen, Frits A. Wijburg et al. · Archives of Disease in Childhood · 2010 · 58 citations · Full text

Prevalence of symptoms in female Fabry disease patients: a case‐control survey

Machtelt G. Bouwman, Saskia M. Rombach, Erica Schenk et al. · Journal of Inherited Metabolic Disease · 2012 · 43 citations · Full text

Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening

Minke H. de Ru, Machtelt G. Bouwman, Frits A. Wijburg et al. · Molecular Genetics and Metabolism · 2012 · 36 citations

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