Zobrazeno 1 - 10
of 130
pro vyhledávání: '"Sybe K. Wadman"'
Publikováno v:
Ciba Foundation Symposium 87-Metabolic Acidosis
More than twenty-five inherited organic acidurias have been identified during the last fifteen years. This remarkable development is due mainly to the introduction of gas chromatography, and gas chromatography combined with mass spectrometry, in paed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99add989f78a125ba81fb6976cad80b7
https://doi.org/10.1002/9780470720691.ch18
https://doi.org/10.1002/9780470720691.ch18
Publikováno v:
Ciba Foundation Symposium 68-Enzyme Defects and Immune Dysfunction
A patient with a selective impairment of T cell-dependent immunity based on a purine nucleoside phosphorylase (PNP) deficiency has been treated with transfusions of irradiated erythrocytes and plasma. After each transfusion with PNP-containing erythr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80efa5e390e0e5d762bfa73af6c7bbe2
https://doi.org/10.1002/9780470720516.ch15
https://doi.org/10.1002/9780470720516.ch15
Autor:
A.S. Tibosch, Marinus Duran, Lambertus Dorland, P.K. De Bree, A. Horvath, Sybe K. Wadman, G.R. Smith
Publikováno v:
Clinica Chimica Acta. 188:221-226
An abnormal ninhydrin positive compound was observed in the urine of two unrelated patients with neurological abnormalities. The compound was isolated by cation exchange followed by preparative paper chromatography and finally purified via cation exc
Autor:
A. Kitano, Jirô Arata, Akito Tanoue, Sybe K. Wadman, David M. Danks, Fumio Endo, Charles M. Lapière, Yoshihiro Sei, Ichiro Matsuda
Publikováno v:
Journal of Clinical Investigation. 85:162-169
Cultured skin fibroblasts or lymphoblastoid cells from eight patients with clinical symptoms of prolidase deficiency were analyzed in terms of enzyme activity, presence of material crossreacting with specific antibodies, biosynthesis of the polypepti
Autor:
Lodewyk J. Mienie, Marinus Duran, W J de Wet, Sybe K. Wadman, J. P. G. van Rooyen, Elardus Erasmus
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 230(1)
The identity of two formerly novel citric acid analogues, homocitric acid and methylhomocitric acid, in urine samples from patients with propionic acidaemia was confirmed by gas chromatography and mass spectrometry. Authentic reference substances wer
Publikováno v:
European journal of pediatrics. 153(7 Suppl 1)
Selective screening for inherited metabolic disorders can be performed efficiently by chromatographic techniques. Each technique is suited for a well-defined group of substances present in urine, plasma and CSF. A comprehensive screening programme ma
Publikováno v:
Advances in Experimental Medicine and Biology ISBN: 9781461362876
Molybdenum cofactor deficiency is an inborn error of metabolism first identified in 1980.1,2 Cofactor deficient patients exhibit combined deficiencies of three molybdoenzymes, sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase, all of which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::494eca95049528a594c3523dafd47058
https://doi.org/10.1007/978-1-4615-2960-6_77
https://doi.org/10.1007/978-1-4615-2960-6_77
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 204(1-3)
Urinary amino acids were isolated from the urine of healthy controls and a patient with a short bowel syndrome. Following derivatization with isopropylalcohol/HCl and trifluoroacetic anhydride the amino acid enantiomers were separated by gas chromato
Autor:
J. B. C. de Klerk, Sybe K. Wadman, Marinus Duran, A.M. Hemmes, R. J. A. Wanders, Ruud B.H. Schutgens, B S Voorbrood, P.H.M. Zoeters, F. J. van Sprang
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry, 189(3), 327-334. Elsevier
Patients with 3-hydroxy-3-methylglutaric aciduria due to a deficiency of 3-hydroxy-3-methylglutaryl Coenzyme A lyase usually present with a life-threatening crisis of hypoglycemia, metabolic acidosis and hyperammonemia. Diagnosis of this inborn error