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European Journal of Pediatrics|October 10, 2002
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)Jan Peter Rake, Gepke Visser, Philippe Labrune, et al.
Orphanet Journal of Rare Diseases|May 27, 2017
PIGO deficiency: palmoplantar keratoderma and novel mutationsMarie-Anne Morren, Jaak Jaeken, Gepke Visser, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|July 21, 2017
Severe Fat Accumulation in Multiple Organs in Pediatric Autopsies: An Uncommon but Significant FindingJeannette C Bleeker, Gepke Visser, Frits A Wijburg, et al.
European Journal of Pediatrics|June 2, 2016
Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patientsMarloes E M Vester, Gepke Visser, Frits A Wijburg, et al.
JIMD Reports|August 9, 2019
Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiencyMarit Schwantje, Monique de Sain-van der Velden, Judith Jans, et al.
European Journal of Pediatrics|October 10, 2002
Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1Gepke Visser, Jan Peter Rake, Philippe Labrune, et al.
JIMD Reports|January 13, 2023
Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newbornsLoek L Crefcoeur, M Rebecca Heiner-Fokkema, Rose E Maase, et al.
Journal of Inherited Metabolic Disease|December 6, 2013
Muscle MRI in patients with long-chain fatty acid oxidation disordersEugene F Diekman, W Ludo van der Pol, Rutger A J Nievelstein, et al.
Orphanet Journal of Rare Diseases|June 2, 2023
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their childLieke M van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, et al.
Blood|February 11, 2003
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)Taco W Kuijpers, Nikolai A Maianski, Anton T J Tool, et al.
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