Výsledky vyhledávání - "F. Neuheiser"

Filter paper cards contaminated with EMLA cream produce artefacts on acylcarnitine analysis

Autor: S. Durka, Claus W. Heizmann, Th. Kuster, F. Neuheiser, Heinz Troxler, Toni Torresani, Peter Kleinert

Publikováno v: Journal of Inherited Metabolic Disease. 27:707-709

Summary: Electrospray ionization tandem mass spectrometry is a widely applied method for the analysis of acylcarnitines in blood samples spotted on filter paper cards (Guthrie cards). When the filter paper cards are contaminated by EMLA cream, highly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b601081f48b937efb31a92071452df
https://doi.org/10.1023/b:boli.0000043024.08450.0c

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6-Pyruvoyl tetrahydropterin synthase from salmon liver: Amino acid sequence analysis by tandem mass spectrometry

Autor: Charles R. Hauer, Claus W. Heizmann, Nenad Blau, Walter Leimbacher, F. Neuheiser, Peter Hunziker

Publikováno v: Biochemical and Biophysical Research Communications. 182:953-959

The most frequent variant of atypical phenylketonuria, an inborn error of metabolism, is characterized by a low activity of the 6-pyruvoyl tetrahydropterin synthase. We purified and characterized this enzyme from salmon liver known to contain high le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efd4f6c4ca76a8552ba3034b1c21e700
https://doi.org/10.1016/0006-291x(92)91824-a

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Detection of a novel variant human hemoglobin by electrospray ionization mass spectrometry

Autor: F. Neuheiser, Ragna Sack, Heinz Troxler, Thomas J. Neuhaus, Peter Kleinert, Marlis Schmid, Hannes Frischknecht, Claus W. Heizmann, Thomas Kuster, Peter Hunziker

Publikováno v: Biochemical and biophysical research communications. 292(4)

A novel hemoglobin variant was detected by electrospray ionization mass spectrometry. Hb Zurich-Hottingen is characterized by an Asn → Ser replacement in the α-chain at position 9 as confirmed by DNA analysis. This hemoglobin variant is silent in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::091bcec1bf6672f79c70573df9bb0b1f
https://pubmed.ncbi.nlm.nih.gov/11944920

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Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

Autor: F. Neuheiser, R. A. Heidenreich, Nenad Blau, Beat Thöny, J. B. C. de Klerk, R. Germann, M. O. Rolland, June E. Ayling, M. Duran, T. Schlüter, P. Guibaud, L. Kierat

Publikováno v: Human Genetics, 103, 162-167. Springer-Verlag

Four patients with primapterinuria, postulated to be due to pterin-4alpha-carbinolamine dehydratase (PCD) deficiency, were diagnosed by biochemical and DNA analysis. All four patients presented in the neonatal period with hyperphenylalaninemia, and e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3fc9840a17547bf1ebf00afc9e7d46f
https://pubmed.ncbi.nlm.nih.gov/9760199

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Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence

Autor: Charles R. Hauer, F. Neuheiser, Peter Hunziker, Claus W. Heizmann, Hans-Christoph Curtius, Nenad Blau, Sandro Ghisla, Igor Rebrin, Beat Thöny

Publikováno v: Europe PubMed Central

Phenylalanine hydroxylase-stimulating protein, also known as pterin-4 alpha-carbinolamine dehydratase (PHS/PCD), was purified from rat and, for the first time, from human liver. We obtained their complete protein primary sequence using a combination

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0bf0e8aed718cead25486956bd66d66
https://pubmed.ncbi.nlm.nih.gov/8444860

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