Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, l-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduriaSTRUYS, Eduard A; VERHOEVEN, Nanda M; ROOS, Birthe et al.Clinical chemistry (Baltimore, Md.). 2003, Vol 49, Num 7, pp 1133-1138, issn 0009-9147, 6 p.Article

Quantitative determination of erythrocyte folate vitamer distribution by liquid chromatography-tandem mass spectrometrySMITH, Desirée E. C; KOK, Robert M; TEERLINK, Ton et al.Clinical chemistry and laboratory medicine. 2006, Vol 44, Num 4, pp 450-459, issn 1434-6621, 10 p.Article

Measurement of Urinary D- and L-2-hydroxyglutarate enantiomers by stable-isotope-dilution liquid chromatography-tandem mass spectrometry after derivatization with diacetyl-L-tartaric anhydrideSTRUYS, Eduard A; JANSEN, Erwin E. W; VERHOEVEN, Nanda M et al.Clinical chemistry (Baltimore, Md.). 2004, Vol 50, Num 8, pp 1391-1395, issn 0009-9147, 5 p.Article

Determination of S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid by stable-isotope dilution tandem mass spectrometrySTRUYS, Eduard A; JANSEN, Erwin E. W; DE MEER, Kees et al.Clinical chemistry (Baltimore, Md.). 2000, Vol 46, Num 10, pp 1650-1656, issn 0009-9147Article

A novel, quantitative assay for homocarnosine in cerebrospinal fluid using stable-isotope dilution liquid chromatography-tandem mass spectrometryJANSEN, Erwin E. W; GIBSON, K. Michael; SHIGEMATSU, Yosuke et al.Journal of chromatography. B. 2006, Vol 830, Num 2, pp 196-200, issn 1570-0232, 5 p.Article

Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometryCOGNAT, Sebastien; CHEILLAN, David; PIRAUD, Monique et al.Clinical chemistry (Baltimore, Md.). 2004, Vol 50, Num 8, pp 1459-1461, issn 0009-9147, 3 p.Article

Pyridoxine-dependent seizures in Dutch patients : diagnosis by elevated urinary alpha-aminoadipic semialdehyde levelsBOK, Levinus A; STRUYS, Eduord; WILLEMSEN, Michel A. A. P et al.Archives of disease in childhood. 2007, Vol 92, Num 8, pp 687-689, issn 0003-9888, 3 p.Article

Progress in understanding 2-hydroxyglutaric aciduriasKRANENDIJK, Martijn; STRUYS, Eduard A; SALOMONS, Gajja S et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 4, pp 571-587, issn 0141-8955, 17 p.Article

L-2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 PatientsSTEENWEG, Marjan E; SALOMONS, Gajja S; WALTER, John et al.Radiology. 2009, Vol 251, Num 3, pp 856-865, issn 0033-8419, 10 p.Article

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1CRISPONI, Laura; CRISPONI, Giangiorgio; MARONGIU, Mara et al.American journal of human genetics. 2007, Vol 80, Num 5, pp 971-981, issn 0002-9297, 11 p.Article

Intracellular s-adenosylhomocysteine increased levels are associated with DNA hypomethylation in HUVECCASTRO, Rita; RIVERA, Isabel; MARTINS, Carla et al.Journal of molecular medicine (Berlin. Print). 2005, Vol 83, Num 10, pp 831-836, issn 0946-2716, 6 p.Article

The transmethylation cycle in the brain of Alzheimer patientsMULDER, Cees; SCHOONENBOOM, Niki S. M; JANSEN, Erwin E. W et al.Neuroscience letters. 2005, Vol 386, Num 2, pp 69-71, issn 0304-3940, 3 p.Article

Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS : application to two new inherited defects of metabolismWAMELINK, Mirjam M. C; STRUYS, Eduard A; HUCK, Jojanneke H. J et al.Journal of chromatography. B. 2005, Vol 823, Num 1, pp 18-25, issn 1570-0232, 8 p.Conference Paper

Enzyme assay for diagnosis of guanidinoacetate methvltransferase deficiencyVERHOEVEN, Nanda M; ROOS, Birthe; STRUYS, Eduard A et al.Clinical chemistry (Baltimore, Md.). 2004, Vol 50, Num 2, pp 441-443, issn 0009-9147, 3 p.Article

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:Glycine amidinotransferase deficiencyVERHOEVEN, Nanda M; SCHOR, Danielle S. M; ROOS, Birthe et al.Clinical chemistry (Baltimore, Md.). 2003, Vol 49, Num 5, pp 803-805, issn 0009-9147, 3 p.Article

Murine succinate semialdehyde dehydrogenase deficiencyGUPTA, Maneesh; HOGEMA, Boris M; JAKOBS, Cornelis et al.Annals of neurology. 2003, Vol 54, pp S81-S90, issn 0364-5134, SUP6Conference Paper

Transaldolase deficiency : Liver cirrhosis associated with a new inborn error in the pentose phosphate pathwayVERHOEVEN, Nanda M; HUCK, Jojanneke H. J; ROOS, Birthe et al.American journal of human genetics. 2001, Vol 68, Num 5, pp 1086-1092, issn 0002-9297Article

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiencyROCHA, Monica S; TEERLINK, Tom; JANSSEN, Mirian C. H et al.Atherosclerosis. 2012, Vol 222, Num 2, pp 509-511, issn 0021-9150, 3 p.Article

Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver FailureBALASUBRAMANIAM, S; WAMELINK, Mirjam M. C; NGU, Lock-Hock et al.Journal of pediatric gastroenterology and nutrition. 2011, Vol 52, Num 1, pp 113-116, issn 0277-2116, 4 p.Article

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsyBOK, Levinus A; MAURITS, Natasha M; VAN DER HOEVEN, Johannes H et al.Epilepsia (Copenhagen). 2010, Vol 51, Num 12, pp 2406-2411, issn 0013-9580, 6 p.Article

An intriguing Silent mutation and a founder effect in antiquitin (ALDH7A1)SALOMONS, Gajja S; BOK, Levinus A; STRUYS, Eduard A et al.Annals of neurology. 2007, Vol 62, Num 4, pp 414-418, issn 0364-5134, 5 p.Article

Severe epilepsy in X-linked creatine transporter defect (CRTR-D)MARGHERITA MANCARDI, Maria; CARUSO, Ubaldo; GAGGERO, Roberto et al.Epilepsia (Copenhagen). 2007, Vol 48, Num 6, pp 1211-1213, issn 0013-9580, 3 p.Article

Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometryAL-DIRBASHI, Osama Y; RASHED, Mohamed S; TEN BRINK, Herman J et al.Journal of chromatography. B. 2006, Vol 831, Num 1-2, pp 274-280, issn 1570-0232, 7 p.Article

Folic acid treatment increases homocysteine remethylation and methionine transmethylation in healthy subjectsSTAM, Frank; SMULDERS, Yvo M; VAN GULDENER, Coen et al.Clinical science (1979). 2005, Vol 108, Num 5, pp 449-456, issn 0143-5221, 8 p.Article

High prevalence of SLC6A8 deficiency in X-linked mental retardationROSENBERG, Efraim H; ALMEIDA, Ligia S; JAKOBS, Cornelis et al.American journal of human genetics. 2004, Vol 75, Num 1, pp 97-105, issn 0002-9297, 9 p.Article