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Jan de Jong

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Anna Simon; H P H Kremer; Ron A Wevers; Hans Scheffer; Jan G N de Jong; J W M Van Der Meer; Joost P H Drenth
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
P M W Janssens; Akosua N J A de Groot; Jan G N de Jong; Maria L F Liebrand-van Sambeek; Arie P T Smits; Ron A Wevers
[Hydrops fetalis as an indication for a systematic investigation into the presence of lysosomal storage diseases].
Udo F H Engelke; Maria L F Liebrand-van Sambeek; Jan G N de Jong; Jules G Leroy; Eva Morava; Jan A M Smeitink; Ron A Wevers
N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.

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All Publications

2004: Anna Simon; H P H Kremer; Ron A Wevers; Hans Scheffer; Jan G N de Jong; J W M Van Der Meer; Joost P H Drenth
Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Neurology 2004;62(6):994-7.
2004: P M W Janssens; Akosua N J A de Groot; Jan G N de Jong; Maria L F Liebrand-van Sambeek; Arie P T Smits; Ron A Wevers
[Hydrops fetalis as an indication for a systematic investigation into the presence of lysosomal storage diseases].
Nederlands tijdschrift voor geneeskunde 2004;148(6):264-8.
2004: Udo F H Engelke; Maria L F Liebrand-van Sambeek; Jan G N de Jong; Jules G Leroy; Eva Morava; Jan A M Smeitink; Ron A Wevers
N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.
Clinical chemistry 2004;50(1):58-66.
2003: Johan L K Van Hove; Ron A Wevers; Johan Van Cleemput; Philippe Moerman; Raf Sciot; Gert Matthijs; Els Schollen; Jan G N de Jong; William F Carey; Viv Muller; Cath Nicholls; Kelly Perkins; John J Hopwood
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndrome.
American journal of medical genetics. Part A 2003;118A(4):382-7.
2003: Wim Ruitenbeek; Keiko Kobayashi; Mikio Iijima; Jan A M Smeitink; Udo F H Engelke; Ronney A De Abreu; Hanneke T Kwast; Takeyori Saheki; Carolien A Boelen; Jan G N de Jong; Ron A Wevers
Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.
Annals of clinical biochemistry 2003;40(Pt 1):102-7.
2002: Befekadu Asfaw; Jana Ledvinová; Robert Dobrovolńy; Henk D Bakker; Robert J Desnick; Otto P van Diggelen; Jan G N de Jong; Tamotsu Kanzaki; Amparo Chabas; Irène Maire; Ernst Conzelmann; Detlev Schindler
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
Journal of lipid research 2002;43(7):1096-104.
2001: Michèl A A P Willemsen; Lodewijk IJlst; PM Steijlen; Jan J Rotteveel; Jan G N de Jong; Peter H M F Van Domburg; Ertan Mayatepek; Fons J M Gabreëls; Ronald J A Wanders
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Brain : a journal of neurology 2001;124(Pt 7):1426-37.
2001: Michèl A A P Willemsen; Jan J Rotteveel; Jan G N de Jong; Ronald J A Wanders; Lodewijk IJlst; Georg F Hoffmann; Ertan Mayatepek
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome.
Journal of the neurological sciences 2001;183(1):61-7.
2000: Erik A Boss; Sytske H Moolenaar; L F A G Massuger; Henk Boonstra; Udo F H Engelke; Jan G N de Jong; Ron A Wevers
High-resolution proton nuclear magnetic resonance spectroscopy of ovarian cyst fluid.
NMR in biomedicine 2000;13(5):297-305.
2000: Michèl A A P Willemsen; Jan G N de Jong; Peter H M F Van Domburg; Jan J Rotteveel; Ronald J A Wanders; Ertan Mayatepek
Sjögren-Larsson syndrome.
The Journal of pediatrics 2000;136(2):261.
2000: Michèl A A P Willemsen; Jan G N de Jong; Peter H M F Van Domburg; Jan J Rotteveel; Ronald J A Wanders; Ertan Mayatepek
Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome.
The Journal of pediatrics 2000;136(2):258-60.
1999: B J H M Poorthuis; Ron A Wevers; Wim J Kleijer; Johanna E M Groener; Jan G N de Jong; Sonja van Weely; Klary E Niezen-Koning; Otto P van Diggelen
The frequency of lysosomal storage diseases in The Netherlands.
Human genetics 1999;105(1-2):151-6.
1999: Michèl A A P Willemsen; PM Steijlen; Jan G N de Jong; Jan J Rotteveel; Lodewijk IJlst; MA van Werkhoven; Ronald J A Wanders
A novel 4 bp deletion mutation in the FALDH gene segregating in a Turkish family with Sjögren-Larsson syndrome.
The Journal of investigative dermatology 1999;112(5):827-8.
1999: Peter H M F Van Domburg; Michèl A A P Willemsen; Jan J Rotteveel; Jan G N de Jong; Henk O M Thijssen; Arend Heerschap; J R M Cruysberg; Ronald J A Wanders; Fons J M Gabreëls; PM Steijlen
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients.
Neurology 1999;52(7):1345-52.
1999: Ron A Wevers; Udo F H Engelke; Sytske H Moolenaar; Christa Bräutigam; Jan G N de Jong; R Duran; Ronney A De Abreu; Albert H van Gennip
1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism.
Clinical chemistry 1999;45(4):539-48.
1999: Sytske H Moolenaar; J Poggi-Bach; Udo F H Engelke; J M Corstiaensen; Arend Heerschap; Jan G N de Jong; BA Binzak; Jerry Vockley; Ron A Wevers
Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study.
Clinical chemistry 1999;45(4):459-64.
1998: Jan G N de Jong; johannes aerts; Sonja van Weely; Carla E M Hollak; J van Pelt; L M van Woerkom; Maria L F Liebrand-van Sambeek; Ron A Wevers
Oligosaccharide excretion in adult Gaucher disease.
Journal of inherited metabolic disease 1998;21(1):49-59.
1997: Ron A Wevers; Udo F H Engelke; Jan J Rotteveel; Arend Heerschap; Jan G N de Jong; N G G M Abeling; Albert H van Gennip; Ronney A De Abreu
1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism.
Journal of inherited metabolic disease 1997;20(3):345-50.
1996: J L M Keulemans; Arnold J J Reuser; Marian A Kroos; Rob Willemsen; Monique M P Hermans; Ans M W van den Ouweland; Jan G N de Jong; Ron A Wevers; W O Renier; D Schindler; M J Coll; A Chabas; H Sakuraba; Y Suzuki; Otto P van Diggelen
Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
Journal of medical genetics 1996;33(6):458-64.
1995: Ron A Wevers; Udo F H Engelke; U Wendel; Jan G N de Jong; Fons J M Gabreëls; Arend Heerschap
Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.
Clinical chemistry 1995;41(5):744-51.
1989: Jan G N de Jong; Ron A Wevers; C Laarakkers; B J H M Poorthuis
Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses.
Clinical chemistry 1989;35(7):1472-7.