F. Wijburg

发表

Pink‐creamy whole blood in a 3‐month‐old infant with a homozygous deletion in the lipoprotein lipase gene

G. Dallinga-Thie, J. Kastelein, H. Avis, 2010, Clinical genetics.

Early cerebral manifestations in a young female with Fabry disease with skewed X‐inactivation

B. Poorthuis, M. Bouwman, G. Linthorst, 2011, Clinical genetics.

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

P. Barth, J. Loeffen, R. Smeets, 1999, Annals of neurology.

Oncological implications of RET gene mutations in Hirschsprung’s disease

R. Hofstra, R. Hofstra, R. Sijmons, 1998, Gut.

Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease

C. Hollak, R. Boot, J. Aerts, 2005, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose

R. Wanders, J. Ruiter, N. Feller, 1992, Journal of Inherited Metabolic Disease.

Sanfilippo syndrome: A mini-review

B. Poorthuis, G. Ruijter, F. Wijburg, 2008, Journal of Inherited Metabolic Disease.

Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.

H. te Brinke, L. Ijlst, N. van Vlies, 2017, Molecular genetics and metabolism.

Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation

R. Schutgens, D. Rosenblatt, B. Poorthuis, 1992, European Journal of Pediatrics.

Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?

G. Brown, C. Sewry, K. Morten, 1995, Journal of Inherited Metabolic Disease.

UvA-DARE ( Digital Academic Repository ) Oncological implications of RET gene mutations in Hirschsprung ' s disease

R. Hofstra, C. Buys, G. Tan-Sindhunata, 1998 .

Restoration of NADH-oxidation in complex I and complex III deficient fibroblasts by menadione

R. Wanders, N. Feller, C. D. Groot, 1991, Journal of Inherited Metabolic Disease.

Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family

R. Zwart, J. N. Spelbrink, R. Zwart, 1996, Journal of Inherited Metabolic Disease.

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots

H. Waterham, M. Durán, R. Wanders, 2005, Journal of Inherited Metabolic Disease.

Sanfilippo syndrome: A mini-review

B. Poorthuis, G. Ruijter, F. Wijburg, 2008, Journal of Inherited Metabolic Disease.

Muscle cell cultures in Menkes' disease: Copper accumulation in myotubes

K. Sinjorgo, P. Bolhuis, J. J. Kroon, 1990, Journal of Inherited Metabolic Disease.

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

F. Wijburg, E. Bleeker-Wagemakers, R. Oostra, 1994, Journal of Medical Genetics.

Pink‐creamy whole blood in a 3‐month‐old infant with a homozygous deletion in the lipoprotein lipase gene

F. Wijburg, J. Kastelein, G. Dallinga‐Thie, 2010, Clinical genetics.

Clinical features of galactokinase deficiency:A review of the literature

R. Wanders, F. Wijburg, A. Bosch, 2003, Journal of Inherited Metabolic Disease.