Sass JO - 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: 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.

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

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.

Sass JO, Forstner R, Sperl W. Sass JO, et al. Brain Dev. 2004 Jan;26(1):12-4. doi: 10.1016/s0387-7604(03)00071-8. Brain Dev. 2004. PMID: 14729408

4

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT. Sjarif DR, et al. Among authors: sass jo. Eur J Hum Genet. 2004 Jun;12(6):424-32. doi: 10.1038/sj.ejhg.5201172. Eur J Hum Genet. 2004. PMID: 15026783

5

Genetic basis of hyperlysinemia.

Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M. Houten SM, et al. Among authors: sass jo. Orphanet J Rare Dis. 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57. Orphanet J Rare Dis. 2013. PMID: 23570448 Free PMC article.

6

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

7

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

8

3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.

Sasarman F, Ferdinandusse S, Sinasac DS, Fung E, Sparkes R, Reeves M, Rombough C, Sass JO, Voit R, Ruiter JPN, Koster J, Waterham HR, Pasquini E, Donati MA, Marquardt T, Wanders RJA, Al-Hertani W. Sasarman F, et al. Among authors: sass jo. J Inherit Metab Dis. 2022 May;45(3):445-455. doi: 10.1002/jimd.12486. Epub 2022 Mar 7. J Inherit Metab Dis. 2022. PMID: 35174513

9

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. Ensenauer R, et al. Among authors: sass jo. Am J Hum Genet. 2004 Dec;75(6):1136-42. doi: 10.1086/426318. Epub 2004 Oct 14. Am J Hum Genet. 2004. PMID: 15486829 Free PMC article.

10

Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids.

van Weeghel M, te Brinke H, van Lenthe H, Kulik W, Minkler PE, Stoll MS, Sass JO, Janssen U, Stoffel W, Schwab KO, Wanders RJ, Hoppel CL, Houten SM. van Weeghel M, et al. Among authors: sass jo. FASEB J. 2012 Oct;26(10):4316-26. doi: 10.1096/fj.12-206326. Epub 2012 Jul 10. FASEB J. 2012. PMID: 22782973

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