Concepedia

P. D. Maaswinkel‐Mooij

PD

10

Publications

389

Citations

10

H-Index

1989

Active since

Affiliations

Leiden University(Current)

Leiden University Medical Center

University of Amsterdam

Juliana Kinderziekenhuis

Vienna General Hospital

P. D. Maaswinkel‐Mooij is an author at Leiden University specializing in medicine, urology, and metabolism.

Top concepts

Publications per year

1989–2000

10

Publications

10

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

Marjo S. van der Knaap, Nanda M. Verhoeven, P. D. Maaswinkel‐Mooij et al. · Annals of Neurology · 2000 · 87 citations

Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia

P. D. Maaswinkel‐Mooij, Coby Van den Bogert, H.R. Scholte et al. · The Journal of Pediatrics · 1996 · 63 citations

, , +9

Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities

A T Helderman-van den Enden, P. D. Maaswinkel‐Mooij, E Hoogendoorn et al. · Journal of Medical Genetics · 1999 · 46 citations

The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations

P. D. Maaswinkel‐Mooij, Carla E. M. Hollak, M. Van Eysden‐Plaisier et al. · Journal of Inherited Metabolic Disease · 2000 · 45 citations

Adenylosuccinase deficiency presenting with epilepsy in early infancy

P. D. Maaswinkel‐Mooij, L.A.E.M. Laan, W. Onkenhout et al. · Journal of Inherited Metabolic Disease · 1997 · 39 citations

, , +2

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