Výsledky vyhledávání - "NMR-spectroscopy in body fluids in patients with inherited metabolic diseases"

cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding β-ureidopropionase

Autor: Naoki Hamajima, Birgit Assmann, Gudrun Göhlich-Ratmann, Rutger Meinsma, A. H. van Gennip, H. Van Lenthe, A. B. P. Van Kuilenburg, Ron A. Wevers, P. Vreken

Publikováno v: BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION, 1447(2-3), 251-257. Elsevier BV
Biochimica et Biophysica Acta, N. Gene Structure and Expression, 1447, pp. 251-257
Biochimica et Biophysica Acta, N. Gene Structure and Expression, 1447, 251-257

A full-length cDNA clone encoding human beta-ureidopropionase was isolated. A 1152-nucleotide open reading frame which corresponds to a protein of 384 amino acids with a calculated molecular weight of 43¿ omitted¿158 Da, surrounded by a 5'-untransl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4b4bf93f6fcd996caa8be001695200c
https://doi.org/10.1016/s0167-4781(99)00182-7

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1hmagnetiic resonance spectroscopy: a new technique to discriminate benign from malignant ovarian tumors

Autor: Udo F. H. Engelke, Leon F. A. G. Massuger, Peter B. J. van Vierzen, Arend Heerschap, Ron A. Wevers

Publikováno v: Cancer, 82, 1726-1730
Cancer, 82, 9, pp. 1726-1730

BACKGROUND Currently used techniques such as ultrasound, computed tomography, and magnetic resonance imaging are not fully capable of differentiating benign from malignant ovarian tumors. Magnetic resonance spectroscopy (MRS) may help solve this clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::936ae3dd6d0a64dc5d4b607e4d38e22f
https://doi.org/10.1002/(sici)1097-0142(19980501)82:9<1731::aid-cncr20>3.0.co

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Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation ?

Autor: C. Brautigam, H. W. Seyberth, A.B.P. van Kuilenburg, Birgit Assmann, Ron A. Wevers, Georg F. Hoffmann, Marinus Duran, L. Wagner, A. H. van Gennip

Publikováno v: Journal of Inherited Metabolic Disease, 20, 681-688
Journal of inherited metabolic disease, 20(5), 681-688. Springer Netherlands
Journal of inherited metabolic disease, 20, 681-688. Springer Netherlands
Journal of Inherited Metabolic Disease, 20, pp. 681-688

We describe a boy of consanguineous parents who suffered from intractable diarrhoea due to congenital microvillous atrophy, a recessively inherited autosomal disorder. He developed severe cholestatis starting at 2 weeks of age and leading to liver ci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a1992d5ac495837b28c81c621350052
https://hdl.handle.net/11245/1.137787

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1H NMR spectroscopy of body fluids in patients with inborn errors of purine and pyrimidine metabolism

Autor: Arend Heerschap, J.G.N. de Jong, N. G. G. M. Abeling, Jan J. Rotteveel, Udo F. H. Engelke, R.A. de Abreu, Ron A. Wevers, A. H. van Gennip

Publikováno v: Journal of Inherited Metabolic Disease, 20, pp. 345-350
Journal of inherited metabolic disease, 20(3), 345-350. Springer Netherlands
Journal of inherited metabolic disease, 20, 345-350. Springer Netherlands
Journal of Inherited Metabolic Disease, 20, 345-350

1H NMR spectroscopy of body fluids has been used in the diagnosis of many inborn errors of metabolism (Lehnert and Hunkler 1986; Iles and Chalmers 1988). To our knowledge there is no systematic study available of body fluids from patients with inborn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a664bdf329a07602c649dd36ef9002b1
https://hdl.handle.net/11245/1.137912

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Standardized method for high-resolution 1H-NMR of cerebrospinal fluid

Autor: Wevers, R.A., Engelke, U.F.H., Wendel, U.A.H., Jong, J.G.N. de, Gabreëls, F.J.M., Heerschap, A.

Publikováno v: Clinical Chemistry, 41, 744-751
Clinical Chemistry, 41, 5, pp. 744-751
Clinical Chemistry, 41, 744-745
Clinical Chemistry, 41, pp. 744-745

Contains fulltext : 21186___.PDF (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::268738aa1b2afe3e649e424d53ba79e8
https://hdl.handle.net/2066/21185

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Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter

Autor: N. M. Verhoeven, A.H.J. van Raaij-Selten, Fons J. M. Gabreëls, Shigeo Kure, Ron A. Wevers, M.S. van der Knaap, Jaak Jaeken

Publikováno v: Journal of Child Neurology, 14, pp. 728-731
Journal of Child Neurology, 14(11), 728-731. SAGE Publications Inc.
Van Der Knaap, M S, Wevers, R A, Kure, S, Gabreëls, F J M, Verhoeven, N M, Van Raaij-Selten, B & Jaeken, J 1999, ' Increased cerebrospinal fluid glycine : A biochemical marker for a leukoencephalopathy with vanishing white matter ', Journal of Child Neurology, vol. 14, no. 11, pp. 728-731 . https://doi.org/10.1177/088307389901401108
Journal of Child Neurology, 14, 728-731

Recently, a new disease entity has been defined: the disease of vanishing white matter. This leukoencephalopathy has an autosomal-recessive mode of inheritance. No cause or biochemical marker is known. We studied cerebrospinal fluid amino acids in fi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3489b57c95fc37444eb66b7015605364
https://hdl.handle.net/2066/184799

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Leukoencephalopathy associated with a disturbance in the metabolism of polyols

Autor: W. Feikema, Nanda M. Verhoeven, Udo F. H. Engelke, E.A. Struys, C.A.J.M. Jakobs, M.S. van der Knaap, Ron A. Wevers, Petra J. W. Pouwels, J. Valk

Publikováno v: Annals of Neurology, 46, 925-928
Annals of Neurology, 46(6), 925-928. John Wiley and Sons Inc.
Van Der Knaap, M S, Wevers, R A, Struys, E A, Verhoeven, N M, Pouwels, P J W, Engelke, U F H, Feikema, W, Valk, J & Jakobs, C 1999, ' Leukoencephalopathy associated with a disturbance in the metabolism of polyols ', Annals of Neurology, vol. 46, no. 6, pp. 925-928 . https://doi.org/10.1002/1531-8249(199912)46:6<925::AID-ANA18>3.0.CO;2-J
Annals of Neurology, 46, 6, pp. 925-928

In vivo proton magnetic resonance spectroscopy of the brain demonstrated highly elevated levels of arabitol and ribitol in a 14-year-old boy with a white matter disorder and neuropathy of unknown origin. These polyols also were shown to be elevated i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15a2baeedb283091db95b45ed170a481
https://doi.org/10.1002/1531-8249(199912)46:6<925::AID-ANA18>3.0.CO

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Dihydropyrimidinase deficiency, a progressive neurological disorder?

Autor: Ron A. Wevers, Jan A.J.M. Bakkeren, Jan J. Rotteveel, A. H. van Gennip, C.W.M.M. Putman, R.A. de Abreu

Publikováno v: Neuropediatrics, 28, 106-110
Neuropediatrics, 28, pp. 106-110
Neuropediatrics, 28, 2, pp. 106-110

A case of a child presenting with congenital abnormalities at birth is reported. The early development remained severely retarded and acquired skills minimally. The head circumference centile decreased. Magnetic resonance imaging showed progressive n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b9129808c3d45b2f1eb01e23908a496
http://hdl.handle.net/2066/25652

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