Neuheiser F - Search Results

1

Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

Niederwieser A, Steinmann B, Exner U, Neuheiser F, Redweik U, Wang M, Rampini S, Wendel U. Niederwieser A, et al. Among authors: neuheiser f. Helv Paediatr Acta. 1983 Mar;38(1):9-26. Helv Paediatr Acta. 1983. PMID: 6862997

2

New tyrosine metabolites in humans: hawkinsin and cis- and trans-4-hydroxycyclohexylacetic acids. Unusual adsorption of deuterated and non-deuterated hawkinsin during gas chromatography.

Niederwieser A, Matasović A, Neuheiser F, Wetzel E. Niederwieser A, et al. Among authors: neuheiser f. J Chromatogr. 1978 Sep 1;146(2):207-12. doi: 10.1016/s0378-4347(00)81886-1. J Chromatogr. 1978. PMID: 701419

3

Synthesis of enzymatically active D-7,8-dihydroneopterin-3'-triphosphate.

Zagalak B, Neuheiser F, Redweik U, Bosshard R, Leimbacher W. Zagalak B, et al. Among authors: neuheiser f. Biochem Biophys Res Commun. 1988 May 16;152(3):1193-9. doi: 10.1016/s0006-291x(88)80411-x. Biochem Biophys Res Commun. 1988. PMID: 3377772

4

6-pyruvoyl tetrahydropterin synthase from salmon liver: amino acid sequence analysis by tandem mass spectrometry.

Hauer CR, Leimbacher W, Hunziker P, Neuheiser F, Blau N, Heizmann CW. Hauer CR, et al. Among authors: neuheiser f. Biochem Biophys Res Commun. 1992 Jan 31;182(2):953-9. doi: 10.1016/0006-291x(92)91824-a. Biochem Biophys Res Commun. 1992. PMID: 1734893

5

Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha.

Thöny B, Neuheiser F, Blau N, Heizmann CW. Thöny B, et al. Among authors: neuheiser f. Biochem Biophys Res Commun. 1995 May 25;210(3):966-73. doi: 10.1006/bbrc.1995.1751. Biochem Biophys Res Commun. 1995. PMID: 7763270

6

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

Troxler H, Neuheiser F, Kleinert P, Kuster T, Heizmann CW, Sack R, Hunziker P, Neuhaus TJ, Schmid M, Frischknecht H. Troxler H, et al. Among authors: neuheiser f. Biochem Biophys Res Commun. 2002 Apr 12;292(4):1044-7. doi: 10.1006/bbrc.2002.6762. Biochem Biophys Res Commun. 2002. PMID: 11944920

7

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

Thöny B, Neuheiser F, Kierat L, Blaskovics M, Arn PH, Ferreira P, Rebrin I, Ayling J, Blau N. Thöny B, et al. Among authors: neuheiser f. Am J Hum Genet. 1998 Jun;62(6):1302-11. doi: 10.1086/301887. Am J Hum Genet. 1998. PMID: 9585615 Free PMC article.

8

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

Thöny B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schlüter T, Germann R, Heidenreich RA, Duran M, de Klerk JB, Ayling JE, Blau N. Thöny B, et al. Among authors: neuheiser f. Hum Genet. 1998 Aug;103(2):162-7. doi: 10.1007/s004390050800. Hum Genet. 1998. PMID: 9760199

9

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

Kuster T, Torresani T, Kleinert P, Durka S, Neuheiser F, Heizmann CW, Troxler H. Kuster T, et al. Among authors: neuheiser f. J Inherit Metab Dis. 2004;27(5):707-9. doi: 10.1023/b:boli.0000043024.08450.0c. J Inherit Metab Dis. 2004. PMID: 15669691

10

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

Hauer CR, Rebrin I, Thöny B, Neuheiser F, Curtius HC, Hunziker P, Blau N, Ghisla S, Heizmann CW. Hauer CR, et al. Among authors: neuheiser f. J Biol Chem. 1993 Mar 5;268(7):4828-31. J Biol Chem. 1993. PMID: 8444860 Free article.

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