5 results match your criteria: "University Hospital Amsterdam (AMC)[Affiliation]"
Is Motor Performance in 5.5-Year-Old Children Associated with the Presence of Generalized Joint Hypermobility?
J Pediatr
September 2015
Education of Physiotherapy, University of Applied Sciences Amsterdam, Amsterdam, The Netherlands; Department of Rehabilitation, University Hospital Amsterdam (AMC), Amsterdam, The Netherlands.
Objective: To determine the prevalence of generalized joint hypermobility (GJH) in Dutch children aged 5.5 years, and to examine the association between GJH and motor performance and development over time.
Study Design: A prospective cohort of 249 children was recruited.
Respiratory chain function in Leber's hereditary optic neuropathy: lack of correlation with clinical disease.
J Inherit Metab Dis
August 1995
Department of Pediatrics, University Hospital Amsterdam (AMC), The Netherlands.
Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.
Neuropediatrics
June 1992
Department of Pediatrics, University Hospital Amsterdam (AMC), The Netherlands.
A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E 1 alpha and E 1 beta. Leigh syndrome was diagnosed on the basis of the clinical and biochemical abnormalities and the typical lesions observed on MRI of the brain. Treatment with a ketogenic diet was associated with clinical and biochemical amelioration.
View Article and Find Full Text PDFNADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain.
J Inherit Metab Dis
February 1992
Department of Paediatrics, University Hospital Amsterdam (AMC), The Netherlands.
Restoration of NADH-oxidation in complex I and complex III deficient fibroblasts by menadione.
J Inherit Metab Dis
February 1992
Department of Paediatrics, University Hospital Amsterdam (AMC), The Netherlands.