Search Results - "ABELING, NICO G. G. M." :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

by Bosch, Annet M, Abeling, Nico G. G. M, IJlst, Lodewijk, Knoester, Hennie, van der Pol, W. Ludo, Stroomer, Alida E. M, Wanders, Ronald J, Visser, Gepke, Wijburg, Frits A, Duran, Marinus, Waterham, Hans R
Published in Journal of inherited metabolic disease (01.02.2011)

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Plasma and erythrocyte fatty acid patterns in patients with recurrent depression: a matched case-control study

Plasma and erythrocyte fatty acid patterns in patients with recurrent depression: a matched case-control study

by Assies, Johanna, Pouwer, François, Lok, Anja, Mocking, Roel J T, Bockting, Claudi L H, Visser, Ieke, Abeling, Nico G G M, Duran, Marinus, Schene, Aart H
Published in PloS one (14.05.2010)

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S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation

S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation

by Hagebeuk, Eveline E. O., Duran, Marinus, Abeling, Nico G. G. M., Vyth, Arno, Poll-The, Bwee Tien
Published in Journal of inherited metabolic disease (01.11.2013)

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Journal Article

Persistent decline in estimated but not measured glomerular filtration rate on tenofovir may reflect tubular rather than glomerular toxicity

Persistent decline in estimated but not measured glomerular filtration rate on tenofovir may reflect tubular rather than glomerular toxicity

by VROUENRAETS, Saskia M. E, FUX, Christoph A, WIT, Ferdinand W. N. M, FERNANDEZ GARCIA, Evian, FURRER, Hansjakob, BRINKMAN, Kees, HOEK, Frans J, ABELING, Nico G. G. M, KREDIET, Ray T, REISS, Peter
Published in AIDS (London) (13.11.2011)

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Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

by Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G. G. M., Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, André B. P.
Published in Journal of inherited metabolic disease (01.09.2014)

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New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?

New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?

by Van Kuilenburg, André B P, Stroomer, Alida E M, Van Lenthe, Henk, Abeling, Nico G G M, Van Gennip, Albert H
Published in Biochemical journal (01.04.2004)

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Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients

Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients

by Verly, Iedan R.N, van Kuilenburg, André B.P, Abeling, Nico G.G.M, Goorden, Susan M.I, Fiocco, Marta, Vaz, Frédéric M, van Noesel, Max M, Zwaan, C. Michel, Kaspers, GertJan L, Merks, Johannes H.M, Caron, Huib N, Tytgat, Godelieve A.M
Published in European journal of cancer (1990) (01.02.2017)

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Neuroblastoma stage 4S: Tumor regression rate and risk factors of progressive disease

Neuroblastoma stage 4S: Tumor regression rate and risk factors of progressive disease

by Tas, Michelle L., Nagtegaal, Michelle, Kraal, Kathelijne C.J.M., Tytgat, Godelieve A.M., Abeling, Nico G.G.M., Koster, Jan, Pluijm, Saskia M.F., Zwaan, C. Michel, Keizer, Bart, Molenaar, Jan J., Noesel, Max M.
Published in Pediatric blood & cancer (01.04.2020)

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β‐Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus

β‐Ureidopropionase Deficiency Presenting with Febrile Status Epilepticus

by Assmann, Birgit E., Kuilenburg, Andre B. P., Distelmaier, Felix, Abeling, Nico G. G. M., Rosenbaum, Thorsten, Schaper, Jörg, Duran, Marinus, Mayatepek, Ertan
Published in Epilepsia (Copenhagen) (01.01.2006)

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Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures

by de Roo, Marieke G.A., Abeling, Nico G.G.M., Majoie, Charles B., Bosch, Annet M., Koelman, Johannes H.T.M., Cobben, Jan M., Duran, Marinus, Poll-The, Bwee Tien
Published in Molecular genetics and metabolism (01.03.2014)

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Journal Article

Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

by Leuzzi, Vincenzo, Mastrangelo, Mario, Polizzi, Agata, Artiola, Cristiana, van Kuilenburg, André B. P., Carducci, Carla, Ruggieri, Martino, Barone, Rita, Tavazzi, Barbara, Abeling, Nico G. G. M., Zoetekouw, Lida, Sofia, Vito, Zappia, Mario, Carducci, Claudia
Published in JIMD Reports, Volume 15 (01.01.2015)

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Book Chapter Journal Article

β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

by van Kuilenburg, André B.P., Meinsma, Rutger, Beke, Eva, Assmann, Birgit, Ribes, Antonia, Lorente, Isabel, Busch, Rebekka, Mayatepek, Ertan, Abeling, Nico G.G.M., van Cruchten, Arno, Stroomer, Alida E.M., van Lenthe, Henk, Zoetekouw, Lida, Kulik, Willem, Hoffmann, Georg F., Voit, Thomas, Wevers, Ron A., Rutsch, Frank, van Gennip, Albert H.
Published in Human molecular genetics (15.11.2004)

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Journal Article

Two Greek siblings with sepiapterin reductase deficiency

Two Greek siblings with sepiapterin reductase deficiency

by Verbeek, Marcel M., Willemsen, Michel A.A.P., Wevers, Ron A., Lagerwerf, Aart J., Abeling, Nico G.G.M., Blau, Nenad, Thöny, Beat, Vargiami, Euthymia, Zafeiriou, Dimitrios I.
Published in Molecular genetics and metabolism (01.08.2008)

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Journal Article

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency

by van Kuilenburg, André B.P., Meijer, Judith, Dobritzsch, Doreen, Meinsma, Rutger, Duran, Marinus, Lohkamp, Bernhard, Zoetekouw, Lida, Abeling, Nico G.G.M., van Tinteren, Herman L.G., Bosch, Annet M.
Published in Molecular genetics and metabolism (01.06.2007)

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Journal Article

ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients

ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients

by van Kuilenburg, André B.P., Dobritzsch, Doreen, Meijer, Judith, Krumpel, Michael, Selim, Laila A., Rashed, Mohamed S., Assmann, Birgit, Meinsma, Rutger, Lohkamp, Bernhard, Ito, Tetsuya, Abeling, Nico G.G.M., Saito, Kayoko, Eto, Kaoru, Smitka, Martin, Engvall, Martin, Zhang, Chunhua, Xu, Wang, Zoetekouw, Lida, Hennekam, Raoul C.M.
Published in Biochimica et biophysica acta (01.07.2012)

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Journal Article

Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with [beta]-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with [beta]-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

by Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G; G; M, Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, André B; P
Published in Journal of inherited metabolic disease (01.11.2014)

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Journal Article

Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

by Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G. G. M., Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, André B. P.
Published in Journal of inherited metabolic disease (01.11.2014)

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Journal Article

Clinical, biochemical and molecular analysis of 13 Japanese patients with [beta]-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Clinical, biochemical and molecular analysis of 13 Japanese patients with [beta]-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

by Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G; G; M, Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, André B; P
Published in Journal of inherited metabolic disease (01.09.2014)

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Journal Article

Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

by Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G. G. M., Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, Andre B. P.
Published in Journal of inherited metabolic disease (2014)

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Journal Article

Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis : a new mitochondrial defect

Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis : a new mitochondrial defect

by BAKKER, H. D, SCHOLTE, H. R, VAN DEN BOGERT, C, RUITENBEEK, W, JENESON, J. A. L, WANDERS, R. J. A, ABELING, N. G. G. M, DORLAND, B, SENGERS, R. C. A, VAN GENNIP, A. H
Published in Pediatric research (01.04.1993)

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