Zobrazeno 1 - 9 of 9 pro vyhledávání: '"E. G. Scholten"'
1
Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation
Autor: A. H. van Gennip, E. G. Scholten, A. van Cruchten, N. G. G. M. Abeling, L. Elzinga, A. E. M. Stroomer, S. Busch
Publikováno v: Clinical Chemistry. 39:380-385
Recent findings suggest that inborn errors of pyrimidine catabolism are less rare than generally assumed. We propose a complete set of diagnostic methods for these disorders, suitable for the clinical chemistry laboratory, and present relevant refere
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d084314c6398a1e56f60f43711909838
https://doi.org/10.1093/clinchem/39.3.380
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2
Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis
Autor: E. G. Scholten, A. Luder, H. Mandel, A. H. van Gennip, N. G. G. M. Abeling, C. Sheiman, Moshe Berant, A. Gutman
Publikováno v: Prenatal Diagnosis. 20:927-929
Prolidase deficiency is an autosomal recessive disorder that is characterized by considerable inter- and intrafamilial variability in its clinical presentation, ranging from asymptomatic to severe and fatal illness. We report here, for the first time
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5648e40832959ef2aa39e61d7c763032
https://doi.org/10.1002/1097-0223(200011)20:11<927::aid-pd943>3.0.co
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3
Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis
Autor: H, Mandel, N, Abeling, A, Gutman, M, Berant, E G, Scholten, C, Sheiman, A, Luder, A H, van Gennip
Publikováno v: Prenatal diagnosis. 20(11)
Prolidase deficiency is an autosomal recessive disorder that is characterized by considerable inter- and intrafamilial variability in its clinical presentation, ranging from asymptomatic to severe and fatal illness. We report here, for the first time
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e961332d24dd197657d268fe36b8887
https://pubmed.ncbi.nlm.nih.gov/11113899
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4
Inhibition of beta-ureidopropionase by propionate may contribute to the neurological complications in patients with propionic acidaemia
Autor: A. B. P. Van Kuilenburg, E. G. Scholten, N. G. G. M. Abeling, A. H. van Gennip, H. Van Lenthe
Publikováno v: Journal of inherited metabolic disease, 20(3), 379-382. Springer Netherlands
Journal of inherited metabolic disease, 20, 379-382. Springer Netherlands
Propionic acidaemia is due to a primary deficiency of propionyl-CoA carboxylase (EC 6.4.1.3) activity. The clinical picture is characterized by repeated relapses and neurological sequelae are common. Among the neurological complications, focal and ge
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17b2125187ac06f85a10011a266d0f8c
https://pure.amc.nl/en/publications/inhibition-of-betaureidopropionase-by-propionate-may-contribute-to-the-neurological-complications-in-patients-with-propionic-acidaemia(b8fe9f45-ff47-4b64-9ce3-6b6b3d1fffe6).html
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5
Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation
Autor: A H, van Gennip, S, Busch, L, Elzinga, A E, Stroomer, A, van Cruchten, E G, Scholten, N G, Abeling
Publikováno v: Clinical chemistry. 39(3)
Recent findings suggest that inborn errors of pyrimidine catabolism are less rare than generally assumed. We propose a complete set of diagnostic methods for these disorders, suitable for the clinical chemistry laboratory, and present relevant refere
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b20037ddc32b6d87fce4451ea33f3dc6
https://pubmed.ncbi.nlm.nih.gov/8448846
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