Fiedler B - Search Results

1

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, Kurlemann G, Fiedler B, Biskup S, Hörtnagel K, Rust S, Marquardt T. Dörre K, et al. Among authors: fiedler b. J Inherit Metab Dis. 2015 Sep;38(5):931-40. doi: 10.1007/s10545-015-9828-6. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778940

2

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T. Park JH, et al. Among authors: fiedler b. Am J Hum Genet. 2015 Dec 3;97(6):894-903. doi: 10.1016/j.ajhg.2015.11.003. Am J Hum Genet. 2015. PMID: 26637979 Free PMC article.

3

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.

Park JH, Hogrebe M, Fobker M, Brackmann R, Fiedler B, Reunert J, Rust S, Tsiakas K, Santer R, Grüneberg M, Marquardt T. Park JH, et al. Among authors: fiedler b. Genet Med. 2018 Feb;20(2):259-268. doi: 10.1038/gim.2017.106. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749473 Free article.

4

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.

Quitmann CM, Rust S, Reunert J, Biskup S, Fiedler B, Marquardt T. Quitmann CM, et al. Among authors: fiedler b. Child Neurol Open. 2021 Aug 5;8:2329048X211034969. doi: 10.1177/2329048X211034969. eCollection 2021 Jan-Dec. Child Neurol Open. 2021. PMID: 34423067 Free PMC article.

5

A Case Report on Juvenile Neuromyelitis Optica: Early Onset, Long Remission Period, and Atypical Treatment Response.

Elpers C, Gross CC, Fiedler B, Meuth SG, Kurlemann G. Elpers C, et al. Among authors: fiedler b. Neuropediatrics. 2015 Aug;46(4):292-5. doi: 10.1055/s-0035-1554101. Epub 2015 Jun 9. Neuropediatrics. 2015. PMID: 26058738

6

Add-on treatment with pyridoxine and sulthiame in 12 infants with West syndrome: an open clinical study.

Debus OM, Köhring J, Fiedler B, Franssen M, Kurlemann G. Debus OM, et al. Among authors: fiedler b. Seizure. 2002 Sep;11(6):381-3. doi: 10.1053/seiz.2001.0667. Seizure. 2002. PMID: 12160666 Free article. Clinical Trial.

7

P50 sensory gating deficit in children with centrotemporal spikes and sharp waves in the EEG.

Fiedler BJ, Debus OM, Neubauer BA, Kienle M, Kurlemann G. Fiedler BJ, et al. Neurosci Lett. 2006 Jan 30;393(2-3):206-10. doi: 10.1016/j.neulet.2005.09.071. Epub 2005 Oct 24. Neurosci Lett. 2006. PMID: 16246492 Clinical Trial.

8

Spontaneous central melatonin secretion and resorption kinetics of exogenous melatonin: a ventricular CSF study.

Debus OM, Lerchl A, Bothe HW, Bremer J, Fiedler B, Franssen M, Koehring J, Steils M, Kurlemann G. Debus OM, et al. Among authors: fiedler b. J Pineal Res. 2002 Nov;33(4):213-7. doi: 10.1034/j.1600-079x.2002.02907.x. J Pineal Res. 2002. PMID: 12390503

9

Brain tumors in children: initial symptoms and their influence on the time span between symptom onset and diagnosis.

Reulecke BC, Erker CG, Fiedler BJ, Niederstadt TU, Kurlemann G. Reulecke BC, et al. J Child Neurol. 2008 Feb;23(2):178-83. doi: 10.1177/0883073807308692. Epub 2007 Dec 26. J Child Neurol. 2008. PMID: 18160552

10

Genotype-phenotype correlation on 45 individuals with West syndrome.

Krey I, Krois-Neudenberger J, Hentschel J, Syrbe S, Polster T, Hanker B, Fiedler B, Kurlemann G, Lemke JR. Krey I, et al. Among authors: fiedler b. Eur J Paediatr Neurol. 2020 Mar;25:134-138. doi: 10.1016/j.ejpn.2019.11.010. Epub 2019 Nov 26. Eur J Paediatr Neurol. 2020. PMID: 31791873

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