F. K. Trefz: search on Z-Library

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51

KBS-DIAMET: database and expert system for diagnosis and treatment of patients with inborn errors of metabolism

U. Mischke, G. Fraudendienst-Egger, P. Matthis, P. Gao, F. K. Trefz

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 159 KB

english, 1995

52

Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe

I. Barić, D. Mardešić, V. Sarnavøka, U. Lichter-Konecki, D. S. Konecki, F. K. Trefz

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 124 KB

english, 1994

53

Relation between phenylalanine hydroxylase genotypes and phenotypic parameters of diagnosis and treatment of hyperphenylalaninaemic disorders

U. Lichter-Konecki, A. Rupp, D. S. Konecki, F. K. Trefz, H. Schmidt, P. Burgard

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 234 KB

english, 1994

54

l-2-Hydroxyglutaric acidaemia: Clinical and biochemical findings in 12 patients and preliminary report onl-2-hydroxyacid dehydrogenase

P. G. Barth, G. F. Hoffmann, J. Jaeken, R. J. A. Wanders, M. Duran, G. A. Jansen, C. Jakobs, W. Lehnert, F. Hanefeld, J. Valk, R. B. H. Schutgens, F. K. Trefz, H. -P. Hartung, N. A. Chamoles, Z. Sfael

Journal:

Journal of Inherited Metabolic Disease

Year:

1993

Language:

english

File:

PDF, 732 KB

english, 1993

55

The effect of deformation on the nucleus-nucleus optical model potential and how it produces pockets

M. Ismail, M. Rashdan, Amand Faessler, M. Trefz, H. M. M. Mansour

Journal:

Zeitschrift für Physik A Hadrons and Nuclei

Year:

1986

Language:

english

File:

PDF, 478 KB

english, 1986

56

Coupling of one and two quasiparticles to a Bohr-Mottelson core in195,196,197,198Hg

M. Trefz, A. A. Raduta, Amand Faessler, Th. J. Köppel

Journal:

Zeitschrift für Physik A Hadrons and Nuclei

Year:

1983

Language:

english

File:

PDF, 990 KB

english, 1983

57

Haplotype distribution and molecular defects of PKU in Italy

I. Dianzani, C. Camaschella, G. Saglio, G. B. Ferrero, G. Romeo, M. Devoto, C. Romano, R. Cerone, M. Giovannini, E. Riva, F. K. Trefz, U. Lichter-Konecki, S. L. C. Woo

Journal:

Journal of Inherited Metabolic Disease

Year:

1990

Language:

english

File:

PDF, 204 KB

english, 1990

58

Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome

K. Metoki, F. A. Hommes, P. Dyken, C. Kelloes, J. Trefz

Journal:

Journal of Inherited Metabolic Disease

Year:

1984

Language:

english

File:

PDF, 611 KB

english, 1984

59

Macrocephaly: an important indication for organic acid analysis

G. F. Hoffmann, F. K. Trefz, P. G. Barth, H. J. Böhles, W. Lehnert, E. Christensen, J. Valk, D. Rating, H. J. Bremer

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 406 KB

english, 1991

60

Atypical vitamin B12-unresponsive methylmalonic aciduria in a sibship with severe progressive encephalomyelopathy: A new genetic disease?

E. Mayatepek, G. F. Hoffmann, R. Baumgartner, A. Schulze, C. Jakobs, F. K. Trefz, H. J. Bremer

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 1.28 MB

english, 1996

61

Haplotype analysis and a newMspl-polymorphism at the phenylalanine hydroxylase gene in the Arabian population

C. Bender, A. Büchler, B. schmidt-Mader, M. Schlotter, A. S. Teebi, D. S. Konecki, F. K. Trefz

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 111 KB

english, 1994

62

3-Methylglutaconic aciduria in a patient with Pearson syndrome

U. Lichter-Konecki, F. K. Trefz, A. Rötig, A. Munnich, A. Pfeil, H. J. Bremer

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 255 KB

english, 1993

63

Methylmalonic acidaemia: haplotype analysis of the methylmalonyl-CoA-mutase gene in Europe

C. Bender, A. Büchler, R. Baumgartner, D. S. Konecki, F. K. Trefz

Journal:

European Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 92 KB

english, 1994

64

Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany

U. Lichter-Konecki, M. schlotter, F. K. Trefz, D. S. Konecki

Journal:

European Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 660 KB

english, 1989

65

Significance of the in vivo deuterated phenylalanine load for long-term phenylalanine tolerance and psychointellectual outcome in patients with PKU

F. K. Trefz, U. Batzler, T. König, Ute Michel, E. Schmidt, Hildgund Schmidt, H. Bickel

Journal:

European Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 358 KB

english, 1990

66

In Vivoresidual activities of the phenylalanine hydroxylating system in phenylketonuria and variants

F. K. Trefz, K. Bartholomé, H. Bickel, P. Lutz, H. Schmidt, H. W. Seyberth

Journal:

Journal of Inherited Metabolic Disease

Year:

1981

Language:

english

File:

PDF, 200 KB

english, 1981

67

Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria

P. Burgard, A. Rupp, D. S. Konecki, F. K. Trefz, H. Schmidt, U. Lichter-Konecki

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 490 KB

english, 1996

68

German Maternal Phenylketonuria Study

S. Cipcic-Schmidt, F. K. Trefz, B. Fünders, G. Seidlitz, K. Ullrich

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 295 KB

english, 1996

69

Outcome implications of the International Maternal Phenylketonuria Collaborative Study (MPKUCS): 1994

R. Koch, H. Levy, W. Hanley, R. Matalon, B. Rouse, F. Trefz, F. de la Cruz

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 211 KB

english, 1996

70

The international collaborative study on maternal phenylketonuria: organization, study design and description of the sample

E. Gross Friedman, R. Koch, C. Azen, H. Levy, W. Hanley, R. Matalon, B. Rouse, F. Trefz, F. de la Cruz

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 303 KB

english, 1996

71

Propionazidämie und Schallempfindungsschwerhörigkeit

S. Brosch, A. Rauffeisen, M. Baur, L. Michels, F.K. Trefz, M. Pfister

Journal:

Year:

2008

Language:

german

File:

PDF, 315 KB

german, 2008

72

Neonatal screening for citrullinaemia

Johannes Sander, Nils Janzen, Stefanie Sander, Ulrike Steuerwald, Anibh M. Das, Sabine Scholl, Friedrich K.Trefz, Hans-Georg Koch, Johannes Häberle, Herbert Korall, Iris Marquardt, Christoph Korenke

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 171 KB

english, 2003

73

Rationale for the German recommendations for phenylalanine level control in phenylketonuria 1997

P. Burgard, H. J. Bremer, P. Bührdel, P. C. Clemens, E. Mönch, H. Przyrembel, F. K. Trefz, K. Ullrich

Journal:

European Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 108 KB

english, 1999

74

Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria

Claus Peter Schmitt, Otto Mehls, Friedrich K. Trefz, Friederike Hörster, T. Lutz Weber, Stefan Kölker

Journal:

Pediatric Nephrology

Year:

2004

Language:

english

File:

PDF, 105 KB

english, 2004

75

Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)

D. Haas, S. F. Garbade, C. Vohwinkel, N. Muschol, F. K. Trefz, J. M. Penzien, J. Zschocke, G. F. Hoffmann, P. Burgard

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 650 KB

english, 2007

76

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria

F. K. Trefz, D. Scheible, H. Götz, G. Frauendienst-Egger

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 239 KB

english, 2009

77

Microscopic approach to real and imaginary part of the heavy ion potential

Amand Faessler, W.H. Dickhoff, M. Trefz, M. Rhoades-Brown

Journal:

Nuclear Physics A

Year:

1984

Language:

english

File:

PDF, 655 KB

english, 1984

78

Microscopic description of heavy-ion scattering in the nuclear matter picture

M. Trefz, Amand Faessler, W.H. Dickhoff

Journal:

Nuclear Physics A

Year:

1985

Language:

english

File:

PDF, 1.48 MB

english, 1985

79

CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD

M. Tomaske, A. Bosk, M.K. Heinemann, L. Sieverding, E.R. Baumgartner, B. Fowler, F.K. Trefz

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 41 KB

english, 2001

80

Outcome of tyrosinaemia type III

C.J. Ellaway, E. Holme, S. Standing, M.A. Preece, A. Green, E. Ploechl, M. Ugarte, F.K. Trefz, J.V. Leonard

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 75 KB

english, 2001

81

Glutaric aciduria type III: A distinctive non-disease?

I. Knerr, J. Zschocke, U. Trautmann, L. Dorland, T. J. de Koning, P. Müller, E. Christensen, F. K. Trefz, G. F. Wündisch, W. Rascher, G. F. Hoffmann

Journal:

Journal of Inherited Metabolic Disease

Year:

2002

Language:

english

File:

PDF, 74 KB

english, 2002

82

Genotype-phenotype correlations in phenylalaninehydroxylase-deficiency (phenylketonuria)

Journal:

Analytical and Bioanalytical Chemistry

Year:

1992

Language:

english

File:

PDF, 109 KB

english, 1992

83

Über eine elektronisch gesteuerte Anlage für die präparative und analytische Flüssigkeits-Säulen-Chromatographie

W. Kochen, F. Trefz

Journal:

Analytical and Bioanalytical Chemistry

Year:

1972

Language:

german

File:

PDF, 744 KB

german, 1972

84

Successful treatment of phenylketonuria with tetrahydrobiopterin

Trefz, Friedrich K., Aulela-Scholz, Christa, Blau, Nenad

Journal:

European Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 39 KB

english, 2001

85

Tetrahydrobiopterin-responsive hyperphenylalaninaemia due to homozygous mutations in the phenylalanine hydroxylase gene

Nenad Blau,Caroline Bernegger,Fritz K. Trefz

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 155 KB

english, 2003

86

Taking a shot at the editor

Journal:

Journal of Oral and Maxillofacial Surgery

Year:

1995

Language:

english

File:

PDF, 329 KB

english, 1995

87

The reaction mechanism of heavy ion scattering at intermediate energies

M. Trefz, Amand Faessler, W.H. Dickhoff, M. Rhoades-Brown

Journal:

Physics Letters B

Year:

1984

Language:

english

File:

PDF, 474 KB

english, 1984

88

Needle trap micro-extraction for VOC analysis: Effects of packing materials and desorption parameters

Phillip Trefz, Sabine Kischkel, Dietmar Hein, Ellwood Sean James, Jochen K. Schubert, Wolfram Miekisch

Journal:

Journal of Chromatography A

Year:

2012

Language:

english

File:

PDF, 544 KB

english, 2012

89

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Friedrich K. Trefz, Barbara K. Burton, Nicola Longo, Mercedes Martinez-Pardo Casanova, Daniel J. Gruskin, Alex Dorenbaum, Emil D. Kakkis, Eric A. Crombez, Dorothy K. Grange, Paul Harmatz, Mark H. Lips

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 505 KB

english, 2009

90

The International Study of Pregnancy Outcome in Women with Maternal Phenylketonuria: Report of a 12-year study

Lawrence D. Platt, Richard Koch, William B. Hanley, Harvey L. Levy, Reuben Matalon, Bobbye Rouse, Fritz Trefz, Felix de la Cruz, Flemming Güttler, Colleen Azen, Eva Gross Friedman b

Journal:

American Journal of Obstetrics and Gynecology

Year:

2000

Language:

english

File:

PDF, 181 KB

english, 2000

91

Journey to Green: Quest for Chemical-Free Products

Lisa M. Trefz, Anne E. R. Brower

Journal:

Journal of Obstetric, Gynecologic, & Neonatal Nursing

Year:

2012

Language:

english

File:

PDF, 896 KB

english, 2012

92

Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life

AP Pöge, F. Autschbach, H. Korall, FK Trefz, E. Mayatepek

Journal:

Acta Paediatrica

Year:

1997

Language:

english

File:

PDF, 995 KB

english, 1997

93

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots

U Spiekerkötter, B Schwahn, H Korall, FK Trefz, BS Andresen, U Wendel

Journal:

Acta Paediatrica

Year:

2000

Language:

english

File:

PDF, 114 KB

english, 2000

94

Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

Okano, Yoshiyuki, Eisensmith, Randy C., Güttler, Flemming, Lichter-Konecki, Uta, Konecki, David S., Trefz, Friedrich K., Dasovich, Mary, Wang, Tao, Henriksen, Karen, Lou, Hans

Journal:

Boston Medical and Surgical Journal

Year:

1991

Language:

english

File:

PDF, 1.08 MB

english, 1991

95

Maternal Phenylketonuria: An International Study

R. Koch, W. Hanley, H. Levy, R. Matalon, B. Rouse, F. Trefz, F. Guttler, C. Azen, E. Friedman, L. Platt, F. de la Cruz

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 85 KB

english, 2000

96

In Memoriam: Horst Bickel (1918–2000)

Friedrich Trefz, Neil Buist

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 166 KB

english, 2001

97

Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency: Possible Regulation of Gene Expression in a Patient with the Homozygous L48S Mutation

Nenad Blau, Friedrich K. Trefz

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 27 KB

english, 2002

98

Determination of deuterium-labeled phenylalanine and tyrosine in human plasma with high pressure liquid chromatography and mass spectrometry

Friedrich K. Trefz, Dennis J. Byrd, Milan E. Blaskovics, Walter Kochen, Peter Lutz

Journal:

Clinica Chimica Acta

Year:

1976

Language:

english

File:

PDF, 492 KB

english, 1976

99

Sensitive in vivo assay of the phenylalanine hydroxylating system with a small intravenous dose of heptadeutero l-phenylalanine using high pressure liquid chromatography and capillary gas chromatography/mass fragmentography

Friedrich K. Trefz, Theo Erlenmaier, Donald H. Hunneman, Klaus Bartholomé, Peter Lutz

Journal:

Clinica Chimica Acta

Year:

1979

Language:

english

File:

PDF, 624 KB

english, 1979

100

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection

Georg F. Hoffmann, Lawrence Sweetman, Hans J. Bremer, Donald H. Hunneman, Josef Hyánek, Victor Kožich, Willy Lehnert, William L. Nyhan, Ines Speidel, Friedrich K. Trefz, Kenneth M. Gibson

Journal:

Clinica Chimica Acta

Year:

1991

Language:

english

File:

PDF, 1.24 MB

english, 1991

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