Baertling F - Search Results

1

A guide to diagnosis and treatment of Leigh syndrome.

Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. Baertling F, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14. J Neurol Neurosurg Psychiatry. 2014. PMID: 23772060 Review.

2

Liver cirrhosis in glycogen storage disease Ib.

Baertling F, Mayatepek E, Gerner P, Baba HA, Franzel J, Schlune A, Meissner T. Baertling F, et al. Mol Genet Metab. 2013 Mar;108(3):198-200. doi: 10.1016/j.ymgme.2013.01.003. Epub 2013 Jan 11. Mol Genet Metab. 2013. PMID: 23357201

3

Hypertrichosis in presymptomatic mitochondrial disease.

Baertling F, Mayatepek E, Distelmaier F. Baertling F, et al. J Inherit Metab Dis. 2013 Nov;36(6):1081-2. doi: 10.1007/s10545-013-9593-3. Epub 2013 Feb 14. J Inherit Metab Dis. 2013. PMID: 23408181

4

Teaching NeuroImages: rapidly progressive leukoencephalopathy in mitochondrial complex I deficiency.

Baertling F, Schaper J, Mayatepek E, Distelmaier F. Baertling F, et al. Neurology. 2013 Jul 9;81(2):e10-1. doi: 10.1212/WNL.0b013e31829a339b. Neurology. 2013. PMID: 23836946 No abstract available.

5

Granulocyte colony stimulating factor for treatment of neutropenia-associated infection in Pearson syndrome.

Baertling F, Meissner T, Troeger A, Pillekamp F, Mayatepek E, Laws HJ, Distelmaier F. Baertling F, et al. Klin Padiatr. 2014 May;226(3):190-1. doi: 10.1055/s-0034-1368760. Epub 2014 Mar 14. Klin Padiatr. 2014. PMID: 24633981 No abstract available.

6

Malonic aciduria: long-term follow-up of new patients detected by newborn screening.

Baertling F, Mayatepek E, Thimm E, Schlune A, Kovacevic A, Distelmaier F, Salomons GS, Meissner T. Baertling F, et al. Eur J Pediatr. 2014 Dec;173(12):1719-22. doi: 10.1007/s00431-014-2421-4. Epub 2014 Sep 20. Eur J Pediatr. 2014. PMID: 25233985

7

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy.

Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ. Baertling F, et al. Hum Mutat. 2015 Jan;36(1):34-8. doi: 10.1002/humu.22715. Epub 2014 Nov 18. Hum Mutat. 2015. PMID: 25339201

8

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

Baertling F, Haack TB, Rodenburg RJ, Schaper J, Seibt A, Strom TM, Meitinger T, Mayatepek E, Hadzik B, Selcan G, Prokisch H, Distelmaier F. Baertling F, et al. Neurogenetics. 2015 Jul;16(3):237-40. doi: 10.1007/s10048-015-0440-6. Epub 2015 Feb 10. Neurogenetics. 2015. PMID: 25663021

9

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.

Distelmaier F, Haack TB, Catarino CB, Gallenmüller C, Rodenburg RJ, Strom TM, Baertling F, Meitinger T, Mayatepek E, Prokisch H, Klopstock T. Distelmaier F, et al. Among authors: baertling f. Neurogenetics. 2015 Oct;16(4):319-23. doi: 10.1007/s10048-015-0444-2. Epub 2015 Mar 24. Neurogenetics. 2015. PMID: 25797485

10

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.

Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F. Holzerova E, et al. Among authors: baertling f. Brain. 2016 Feb;139(Pt 2):346-54. doi: 10.1093/brain/awv350. Epub 2015 Dec 1. Brain. 2016. PMID: 26626369

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