Lehnert W - Search Results

1

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ. Ofman R, et al. Among authors: lehnert w. Am J Hum Genet. 2003 May;72(5):1300-7. doi: 10.1086/375116. Epub 2003 Apr 14. Am J Hum Genet. 2003. PMID: 12696021 Free PMC article.

2

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.

Ensenauer R, Niederhoff H, Ruiter JP, Wanders RJ, Schwab KO, Brandis M, Lehnert W. Ensenauer R, et al. Among authors: lehnert w. Ann Neurol. 2002 May;51(5):656-9. doi: 10.1002/ana.10169. Ann Neurol. 2002. PMID: 12112118

3

3-Methylglutaconic aciduria type I is caused by mutations in AUH.

IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ. IJlst L, et al. Among authors: lehnert w. Am J Hum Genet. 2002 Dec;71(6):1463-6. doi: 10.1086/344712. Epub 2002 Nov 14. Am J Hum Genet. 2002. PMID: 12434311 Free PMC article.

4

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

Lehnert W, Sass JO. Lehnert W, et al. Med Hypotheses. 2005;65(2):330-3. doi: 10.1016/j.mehy.2005.02.021. Med Hypotheses. 2005. PMID: 15922108

5

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

Sass JO, Ensenauer R, Röschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Häberle J, Andresen BS, Mégarbané A, Lehnert W, Zschocke J. Sass JO, et al. Among authors: lehnert w. Mol Genet Metab. 2008 Jan;93(1):30-5. doi: 10.1016/j.ymgme.2007.09.002. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17945527

6

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. Pedersen CB, et al. Among authors: lehnert w. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. Hum Genet. 2008. PMID: 18523805

7

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.

Barth PG, Hoffmann GF, Jaeken J, Wanders RJ, Duran M, Jansen GA, Jakobs C, Lehnert W, Hanefeld F, Valk J, et al. Barth PG, et al. Among authors: lehnert w. J Inherit Metab Dis. 1993;16(4):753-61. doi: 10.1007/BF00711907. J Inherit Metab Dis. 1993. PMID: 8412018

8

Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome.

Schwab KO, Ensenauer R, Matern D, Uyanik G, Schnieders B, Wanders RA, Lehnert W. Schwab KO, et al. Among authors: lehnert w. Eur J Pediatr. 2003 Feb;162(2):90-5. doi: 10.1007/s00431-002-1035-4. Epub 2003 Jan 9. Eur J Pediatr. 2003. PMID: 12548384

9

3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.

Ensenauer R, Müller CB, Schwab KO, Gibson KM, Brandis M, Lehnert W. Ensenauer R, et al. Among authors: lehnert w. J Inherit Metab Dis. 2000 Jun;23(4):341-4. doi: 10.1023/a:1005670911799. J Inherit Metab Dis. 2000. PMID: 10896289 No abstract available.

10

Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients.

Lehnert W, Sperl W, Suormala T, Baumgartner ER. Lehnert W, et al. Eur J Pediatr. 1994;153(7 Suppl 1):S68-80. doi: 10.1007/BF02138781. Eur J Pediatr. 1994. PMID: 7957390

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

173 results

Search Page

Filters