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1

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

Sarah C Grünert, Udo Wendel, Martin Lindner, Michael Leichsenring, K Otfried Schwab, Jerry Vockley, Willy Lehnert, Regina Ensenauer

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 294 KB

english, 2012

2

Clinical variability in 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency

Regina Ensenauer, Helmut Niederhoff, Jos P. N. Ruiter, Ronald J. A. Wanders, K. Otfried Schwab, Matthias Brandis, Willy Lehnert

Journal:

Annals of Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 1.72 MB

english, 2002

3

L-2-hydroxyglutaric acidemia: A novel inherited neurometabolic disease

Dr. Peter G. Barth, Georg F. Hoffmann, Jaak Jaeken, Willy Lehnert, Folker Hanefeld, Albert H. Van Gennip, Marinus Duran, Jaap Valk, Ruud B. H. Schutgens, Friedrich K. Trefz, Gabriele Reimann, Hans-Pet

Journal:

Annals of Neurology

Année:

1992

Langue:

english

Fichier:

PDF, 577 KB

english, 1992

4

Eine neue Synthese für Hydro-benz[cd]indol-Derivate

Hans Plieninger, Willy Lehnert

Journal:

European Journal of Inorganic Chemistry

Année:

1967

Langue:

german

Fichier:

PDF, 439 KB

german, 1967

5

Derivate des Tetrahydro-1.4-äthano-naphthalins aus β-Amino-säuren

Hans Plieninger, Willy Lehnert, Dietrich Mangold

Journal:

European Journal of Inorganic Chemistry

Année:

1967

Langue:

german

Fichier:

PDF, 372 KB

german, 1967

6

Totalsynthese des (±)-chanoclavin I

Hans Plieninger, Willy Lehnert, Dietrich Mangold, Dieter Schmalz, Alfred Völkl, Jochen Westphal

Journal:

Tetrahedron Letters

Année:

1975

Langue:

german

Fichier:

PDF, 185 KB

german, 1975

7

Verbesserte variante der knoevenagel-kondensation mit TiCl4/THF/pyridin(I). Alkyliden- und Arylidenmalonester bei 0–25°C.

Journal:

Tetrahedron Letters

Année:

1970

Langue:

german

Fichier:

PDF, 115 KB

german, 1970

8

Long-term results of selective screening for inborn errors of metabolism

Journal:

European Journal of Pediatrics

Année:

1994

Langue:

english

Fichier:

PDF, 412 KB

english, 1994

9

First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis

Loreta Cimbalistienè, Willy Lehnert, Kirsi Huoponen, Vaidutis Kučinskas

Journal:

Journal of Applied Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 67 KB

english, 2007

10

"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child

Klaus Gempel, Caroline von Praun, Jochen Baumkötter, Willy Lehnert, Regina Ensenauer, Klaus-Dieter Gerbitz, Matthias F. Bauer

Journal:

European Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 92 KB

english, 2001

11

Enantioselective analysis of ketone bodies in patients with β-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting

Martin Heil, Frank Podebrad, Elisa Prado, Thomas Beck, Armin Mosandl, Adrian C Sewell, Hans Böhles, Willy Lehnert

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Année:

2000

Langue:

english

Fichier:

PDF, 319 KB

english, 2000

12

The Internal Dose of Passive Smoking at Home Depends on the Size of the Dwelling

Matthias Henschen, Thomas Frischer, Thomas Pracht, Edda Spiekerkötter, Wilfried Karmaus, Rolf Meinert, Willi Lehnert, Emil Wehrle, Joachim Kuehr

Journal:

Environmental Research

Année:

1997

Langue:

english

Fichier:

PDF, 230 KB

english, 1997

13

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

Année:

1991

Langue:

english

Fichier:

PDF, 1.24 MB

english, 1991

14

Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

Willy Lehnert, Jörn Oliver Sass

Journal:

Medical Hypotheses

Année:

2005

Langue:

english

Fichier:

PDF, 83 KB

english, 2005

15

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism

Jörn Oliver Sass, Regina Ensenauer, Wulf Röschinger, Horst Reich, Ulrike Steuerwald, Oliver Schirrmacher, Katharina Engel, Johannes Häberle, Brage Storstein Andresen, André Mégarbané, Willy Lehnert, J

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 211 KB

english, 2008

16

Primary treatment of propionic acidemia complicated by acute thiamine deficiency

Dietrich Matern, Hans H. Seydewitz, Willy Lehnert, Helmut Niederhoff, Jekabs U. Leititis, Matthias Brandis

Journal:

The Journal of Pediatrics

Année:

1996

Langue:

english

Fichier:

PDF, 279 KB

english, 1996

17

Screening in clinical trials

Jörn Oliver Sass, Sara Pascoe-González, Willy Lehnert

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 50 KB

english, 2002

18

3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH

Lodewijk IJlst, Ference J. Loupatty, Jos P.N. Ruiter, Marinus Duran, Willy Lehnert, Ronald J.A. Wanders

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 276 KB

english, 2002

19

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

Rob Ofman, P.N. Jos Ruiter, Marike Feenstra, Marinus Duran, Tien Bwee Poll-The, Johannes Zschocke, Regina Ensenauer, Willy Lehnert, Jörn Oliver Sass, Wolfgang Sperl, J.A. Ronald Wanders

Journal:

The American Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 329 KB

english, 2003

20

Lack of Glutamate Transporter EAAC1 in the Epididymis of Infertile c-ros Receptor Tyrosine-Kinase Deficient Mice

ANDREA WAGENFELD, CHING-HEI YEUNG, WILLI LEHNERT, EBERHARD NIESCHLAG, Dr TREVOR G. COOPER

Journal:

Journal of Andrology

Année:

2002

Langue:

english

Fichier:

PDF, 6.19 MB

english, 2002

21

Screening for inborn metabolic disorders by 1H-NMR spectrometry

Willy Lehnert, Dieter Hunkler

Journal:

The Journal of Pediatrics

Année:

1986

Langue:

english

Fichier:

PDF, 135 KB

english, 1986

22

Adrenoleukodystrophy: diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts

Burkhard Tönshoff, Willy Lehnert, Hans-Hilger Ropers

Journal:

Clinical Genetics

Année:

1982

Langue:

english

Fichier:

PDF, 323 KB

english, 1982

23

Cotinine Excretion as a Predictor of Peak Flow Variability

KUEHR, JOACHIM, FRISCHER, THOMAS, KARMAUS, WILFRIED, MEINERT, ROLF, PRACHT, THOMAS, LEHNERT, WILLI

Journal:

American Journal of Respiratory and Critical Care Medicine

Année:

1998

Langue:

english

Fichier:

PDF, 57 KB

english, 1998

24

Untypischer Verlauf eines multiplen Acyl-CoA-Dehydrogenase-Defektes

Rose, Markus, Matern, Dieter, Millington, David, Lehnert, Willy

Journal:

Klinische Pädiatrie

Année:

1999

Fichier:

PDF, 462 KB

1999