Sass JO - Search Results

1

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. 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

2

Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.

Sass JO, Sander S, Zschocke J. Sass JO, et al. J Inherit Metab Dis. 2004;27(6):741-5. doi: 10.1023/B:BOLI.0000045798.12425.1b. J Inherit Metab Dis. 2004. PMID: 15505379

3

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

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

4

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrázová L, Balcı MC, Bischof F, Çoker M, Das AM, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-Havla AS, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO. Grünert SC, et al. Among authors: sass jo. Mol Genet Metab. 2017 Jul;121(3):206-215. doi: 10.1016/j.ymgme.2017.05.014. Epub 2017 May 22. Mol Genet Metab. 2017. PMID: 28583327

5

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

Dembic M, Andersen HS, Bastin J, Doktor TK, Corydon TJ, Sass JO, Lopes Costa A, Djouadi F, Andresen BS. Dembic M, et al. Among authors: sass jo. Mol Genet Metab. 2019 Jan;126(1):64-76. doi: 10.1016/j.ymgme.2018.10.004. Epub 2018 Oct 22. Mol Genet Metab. 2019. PMID: 30446350

6

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: sass jo. 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.

7

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balcı MC, Berg V, Çoker M, Das AM, Demirkol M, Derks TGJ, Gökçay G, Uçar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sass JO. Grünert SC, et al. Among authors: sass jo. Mol Genet Metab. 2017 Sep;122(1-2):67-75. doi: 10.1016/j.ymgme.2017.06.012. Epub 2017 Jun 27. Mol Genet Metab. 2017. PMID: 28689740

8

Screening in clinical trials.

Sass JO, Pascoe-González S, Lehnert W. Sass JO, et al. 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

Amino acid metabolism in patients with propionic acidaemia.

Scholl-Bürgi S, Sass JO, Zschocke J, Karall D. Scholl-Bürgi S, et al. Among authors: sass jo. J Inherit Metab Dis. 2012 Jan;35(1):65-70. doi: 10.1007/s10545-010-9245-9. Epub 2010 Nov 27. J Inherit Metab Dis. 2012. PMID: 21113738 Review.

10

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: sass jo. 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.

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