Wortmann SB - Search Results

1

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

Wortmann SB, Oud MM, Alders M, Coene KLM, van der Crabben SN, Feichtinger RG, Garanto A, Hoischen A, Langeveld M, Lefeber D, Mayr JA, Ockeloen CW, Prokisch H, Rodenburg R, Waterham HR, Wevers RA, van de Warrenburg BPC, Willemsen MAAP, Wolf NI, Vissers LELM, van Karnebeek CDM. Wortmann SB, et al. J Inherit Metab Dis. 2022 Jul;45(4):663-681. doi: 10.1002/jimd.12507. Epub 2022 May 22. J Inherit Metab Dis. 2022. PMID: 35506430 Free PMC article. Review.

2

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.

Morava E, Wortmann SB, van Essen HZ, Liebrand van Sambeek R, Wevers R, van Diggelen OP. Morava E, et al. Among authors: wortmann sb. J Inherit Metab Dis. 2005;28(5):703-6. doi: 10.1007/s10545-005-0095-9. J Inherit Metab Dis. 2005. PMID: 16151901

3

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.

Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507

4

Early cardiac involvement in children carrying the A3243G mtDNA mutation.

Wortmann SB, Rodenburg RJ, Backx AP, Schmitt E, Smeitink JA, Morava E. Wortmann SB, et al. Acta Paediatr. 2007 Mar;96(3):450-1. doi: 10.1111/j.1651-2227.2006.00158.x. Acta Paediatr. 2007. PMID: 17407476

5

Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.

Wortmann SB, Rodenburg R, Schwahn B, Smeitink JA, Morava E. Wortmann SB, et al. Genet Couns. 2007;18(1):119-23. Genet Couns. 2007. PMID: 17515308

6

Major depression in adolescent children consecutively diagnosed with mitochondrial disorder.

Koene S, Kozicz TL, Rodenburg RJ, Verhaak CM, de Vries MC, Wortmann S, van de Heuvel L, Smeitink JA, Morava E. Koene S, et al. J Affect Disord. 2009 Apr;114(1-3):327-32. doi: 10.1016/j.jad.2008.06.023. Epub 2008 Aug 9. J Affect Disord. 2009. PMID: 18692904

7

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Wortmann SB, et al. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. Brain. 2009. PMID: 19015156

8

Mitochondrial energy production correlates with the age-related BMI.

Wortmann SB, Zweers-van Essen H, Rodenburg RJ, van den Heuvel LP, de Vries MC, Rasmussen-Conrad E, Smeitink JA, Morava E. Wortmann SB, et al. Pediatr Res. 2009 Jan;65(1):103-8. doi: 10.1203/PDR.0b013e31818d1c8a. Pediatr Res. 2009. PMID: 19096353

9

Substrate deprivation therapy in juvenile Sandhoff disease.

Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Wortmann SB, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S307-11. doi: 10.1007/s10545-009-1261-2. Epub 2009 Nov 4. J Inherit Metab Dis. 2009. PMID: 19898952

10

Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction.

Schreuder LT, Nijhuis-van der Sanden MW, de Hair A, Peters G, Wortmann S, Bok LA, Morava E. Schreuder LT, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S205-9. doi: 10.1007/s10545-010-9085-7. Epub 2010 May 5. J Inherit Metab Dis. 2010. PMID: 20443062 Free PMC article.

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