Lehnert W - Search Results

1

Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.

Grünert SC, Villavicencio-Lorini P, Wermuth B, Lehnert W, Sass JO, Schwab KO. Grünert SC, et al. Among authors: lehnert w. J Diabetes Metab Disord. 2013 Jul 5;12(1):37. doi: 10.1186/2251-6581-12-37. J Diabetes Metab Disord. 2013. PMID: 23829977 Free PMC article.

2

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Grünert SC, Wendel U, Lindner M, Leichsenring M, Schwab KO, Vockley J, Lehnert W, Ensenauer R. Grünert SC, et al. Among authors: lehnert w. Orphanet J Rare Dis. 2012 Jan 25;7:9. doi: 10.1186/1750-1172-7-9. Orphanet J Rare Dis. 2012. PMID: 22277694 Free PMC article.

3

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.

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

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

6

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

7

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

8

Screening in clinical trials.

Sass JO, Pascoe-González S, Lehnert W. Sass JO, et al. Among authors: lehnert w. Lancet. 2002 Sep 21;360(9337):952; author reply 952. doi: 10.1016/S0140-6736(02)11058-0. Lancet. 2002. PMID: 12354503 No abstract available.

9

Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.

Ensenauer R, Thiel T, Schwab KO, Tacke U, Stöckler-Ipsiroglu S, Schulze A, Hennig J, Lehnert W. Ensenauer R, et al. Among authors: lehnert w. Mol Genet Metab. 2004 Jul;82(3):208-13. doi: 10.1016/j.ymgme.2004.04.005. Mol Genet Metab. 2004. PMID: 15234333

10

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.

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