-
1
-
-
0032725969
-
CDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding β-ureidopropionase
-
DOI 10.1016/S0167-4781(99)00182-7, PII S0167478199001827
-
Vreken, P.; van Kuilenburg, A.B.P.; Hamajima, N.; Meinsma, R.; van Lenthe, H.; Gohlich-Ratmann, G.; Assmann, B.E.; Wevers, R.A.; van Gennip, A.H. cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase. Biochim. Biophys. Acta. 1999, 1447, 251-257. (Pubitemid 29494998)
-
(1999)
Biochimica et Biophysica Acta - Gene Structure and Expression
, vol.1447
, Issue.2-3
, pp. 251-257
-
-
Vreken, P.1
Van Kuilenburg, A.B.P.2
Hamajima, N.3
Meinsma, R.4
Van Lenthe, H.5
Gohlich-Ratmann, G.6
Assmann, B.E.7
Wevers, R.A.8
Van Gennip, A.H.9
-
2
-
-
84860318464
-
β-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients
-
van Kuilenburg, A.B.P.; Dobritzsch, D.; Meijer, J.; Krumpel, M.; Selim, L.A.; Rashed, M.S.; Assmann, B.;Meinsma, R.; Lohkamp, B.; Ito, T.; Abeling, N.G.; Saito, K.; Eto, K.; Smitka, M.; Engvall, M.; Zhang, C.; Xu, W.; Zoetekouw, L.; Hennekam, R.C. β-Ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. Biochim. Biophys. Acta. 2012, 1822, 1096-1108.
-
(2012)
Biochim. Biophys. Acta
, vol.1822
, pp. 1096-1108
-
-
Van Kuilenburg, A.B.P.1
Dobritzsch, D.2
Meijer, J.3
Krumpel, M.4
Selim, L.A.5
Rashed, M.S.6
Assmann, B.7
Meinsma, R.8
Lohkamp, B.9
Ito, T.10
Abeling, N.G.11
Saito, K.12
Eto, K.13
Smitka, M.14
Engvall, M.15
Zhang, C.16
Xu, W.17
Zoetekouw, L.18
Hennekam, R.C.19
-
3
-
-
33750439491
-
Genetic analysis of the first four patients with β-ureidopropionase deficiency
-
DOI 10.1080/15257770600956870, PII U71G0VG76193427G
-
van Kuilenburg, A.B.P.;Meinsma, R.; Assman, B.; Hoffman, G.F.; Voit, T.; Ribes, A.; Lorente, I.; Busch, R.; Mayatepek, E.; Abeling, N.G.; Wevers, R.A.; Rutsch, F.; van Gennip, A.H. Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. Nucleos. Nucleot. Nucl. 2006, 25, 1093-1098. (Pubitemid 44651853)
-
(2006)
Nucleosides, Nucleotides and Nucleic Acids
, vol.25
, Issue.9-11
, pp. 1093-1098
-
-
Van Kuilenburg, A.B.P.1
Meinsma, R.2
Assman, B.3
Hoffman, G.F.4
Voit, T.5
Ribes, A.6
Lorente, I.7
Busch, R.8
Mayatepek, E.9
Abeling, N.G.G.M.10
Wevers, R.A.11
Rutsch, F.12
Van Gennip, A.H.13
-
4
-
-
33750452732
-
Activity of pyrimidine degradation enzymes in normal tissues
-
DOI 10.1080/15257770600894576, PII R63612146K4WHT17
-
van Kuilenburg, A.B.P.; van Lenthe, H.; van Gennip, A.H. Activity of pyrimidine degradation enzymes in normal tissues. Nucleos. Nucleot. Nucl. 2006, 25, 1211-1214. (Pubitemid 44651876)
-
(2006)
Nucleosides, Nucleotides and Nucleic Acids
, vol.25
, Issue.9-11
, pp. 1211-1214
-
-
Van Kuilenburg, A.B.P.1
Van Lenthe, H.2
Van Gennip, A.H.3
-
5
-
-
33847241832
-
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: A synonymous snp in exon 5 of mcad protects from deleterious mutations in a flanking exonic splicing enhancer
-
Nielsen, K.B.; Sørensen, S.; Cartegni, L.; Corydon, T.J.; Doktor, T.K.; Schroeder, L.D.; Reinert, L.S.; Elpeleg, O.; Krainer, A.R.; Gregersen, N.; Kjems, J.; Andresen, B.S. Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. Am. J. Hum. Genet. 2007, 80, 416-432.
-
(2007)
Am. J. Hum. Genet
, vol.80
, pp. 416-432
-
-
Nielsen, K.B.1
Sørensen, S.2
Cartegni, L.3
Corydon, T.J.4
Doktor, T.K.5
Schroeder, L.D.6
Reinert, L.S.7
Elpeleg, O.8
Krainer, A.R.9
Gregersen, N.10
Kjems, J.11
Andresen, B.S.12
-
6
-
-
1642533451
-
Quantification of 5,6-Dihydrouracil by HPLC-Electrospray Tandem Mass Spectrometry
-
DOI 10.1373/clinchem.2003.026229
-
van Kuilenburg, A.B.P.; van Lenthe, H.; van Cruchten, A.; Kulik, W. Quantification of 5,6- dihydrouracil by HPLC-electrospray tandem mass spectrometry. Clin. Chem. 2004, 50, 236-238. (Pubitemid 38125733)
-
(2004)
Clinical Chemistry
, vol.50
, Issue.1
, pp. 236-238
-
-
Van Kuilenburg, A.B.P.1
Van Lenthe, H.2
Van Cruchten, A.3
Kulik, W.4
-
7
-
-
0033634995
-
Defects in pyrimidine degradation identified by hplc-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips
-
van Lenthe, H.; van Kuilenburg, A.B.P.; Ito, T.; Bootsma, A.H.; van Cruchten, A.; Wada, Y.; van Gennip, A.H. Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips. Clin. Chem. 2000, 46, 1916-1922.
-
(2000)
Clin. Chem
, vol.46
, pp. 1916-1922
-
-
Van Lenthe, H.1
Van Kuilenburg, A.B.P.2
Ito, T.3
Bootsma, A.H.4
Van Cruchten, A.5
Wada, Y.6
Van Gennip, A.H.7
-
8
-
-
9444252988
-
β-Ureidopropionase deficiency: An inborn error of pyrimidine degradation associated with neurological abnormalities
-
DOI 10.1093/hmg/ddh303
-
van Kuilenburg, A.B.P.; Meinsma, R.; Beke, E.; Assmann, B.; Ribes, A.; Lorente, I.; Busch, R.; Mayatepek, E.; Abeling, N.G.; van Cruchten, A.; Stroomer, A.E.; van Lenthe, H.; Zoetekouw, L.; Kulik, W.; Hoffmann, G.F.; Voit, T.; Wevers, R.A.; Rutsch, F.; van Gennip, A.H. Beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum. Mol. Genet. 2004, 13, 2793-2801. (Pubitemid 39562543)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.22
, pp. 2793-2801
-
-
Van Kuilenburg, A.B.P.1
Meinsma, R.2
Beke, E.3
Assmann, B.4
Ribes, A.5
Lorente, I.6
Busch, R.7
Mayatepek, E.8
Abeling, N.G.G.M.9
Van Cruchten, A.10
Stroomer, A.E.M.11
Van Lenthe, H.12
Zoetekouw, L.13
Kulik, W.14
Hoffmann, G.F.15
Voit, T.16
Wevers, R.A.17
Rutsch, F.18
Van Gennip, A.H.19
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