B Plecko
Overview
Explore the profile of B Plecko including associated specialties, affiliations and a list of published articles.
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35
Citations
736
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Recent Articles
1.
Hady-Cohen R, Dragoumi P, Barca D, Plecko B, Lerman-Sagie T, Zafeiriou D
Eur J Paediatr Neurol
. 2021 Oct;
35:93-99.
PMID: 34673402
Inborn errors of metabolism (IEM) are genetic disorders due to a defective metabolic pathway. The incidence of each disorder is variable and depends on the respective population. Some disorders such...
2.
de Rooy R, Halbertsma F, Struijs E, van Spronsen F, Lunsing R, Schippers H, et al.
Eur J Paediatr Neurol
. 2018 Apr;
22(4):662-666.
PMID: 29661537
Aim: In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation...
3.
Haberlandt E, Ensslen M, Gruber-Sedlmayr U, Plecko B, Brunner-Krainz M, Schimmel M, et al.
Eur J Paediatr Neurol
. 2016 Dec;
21(3):457-464.
PMID: 28017557
Background: Anti-N-methyl d-aspartate receptor (NMDAR) encephalitis is a rare disorder characterized by seizures, neuropsychiatric symptoms, dyskinesia and autonomic instability. Objective: Aim of the present study was to evaluate the seizure...
4.
Huemer M, Burer C, Jesina P, Kozich V, Landolt M, Suormala T, et al.
J Inherit Metab Dis
. 2014 Dec;
38(5):957-67.
PMID: 25526710
Background: The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation...
5.
Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, et al.
Clin Genet
. 2010 Feb;
78(3):236-46.
PMID: 20175788
GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset, caused by alterations in the structural gene coding for lysosomal acid beta-galactosidase (GLB1). In addition,...
6.
Haberlandt E, Canestrini C, Brunner-Krainz M, Moslinger D, Mussner K, Plecko B, et al.
Neuropediatrics
. 2009 Dec;
40(3):120-5.
PMID: 20020396
Propionic acidemia (PA) is an autosomal recessively inherited defect of propionyl-CoA carboxylase with an incidence of approximately 1:50 000. There are few reports on the occurrence of EEG findings and...
7.
Pfurtscheller K, Senning B, Bernhard H, Novak M, Zobel G, Plecko B, et al.
Hamostaseologie
. 2009 Sep;
29 Suppl 1:S84-6.
PMID: 19763346
Unlabelled: Severe stroke in children and adolescents with its devastating long term consequences remains a rare disorder with many open questions. Beside the well known risk factors such as infection...
8.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner M, Boehles H, et al.
J Inherit Metab Dis
. 2009 May;
32(4):498-505.
PMID: 19452263
Published data on treatment of fatty acid oxidation defects are scarce. Treatment recommendations have been developed on the basis of observations in 75 patients with long-chain fatty acid oxidation defects...
9.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner M, Boehles H, et al.
J Inherit Metab Dis
. 2009 Apr;
32(4):488-97.
PMID: 19399638
At present, long-chain fatty acid oxidation (FAO) defects are diagnosed in a number of countries by newborn screening using tandem mass spectrometry. In the majority of cases, affected newborns are...
10.
Kluger G, Blank R, Paul K, Paschke E, Jansen E, Jakobs C, et al.
Neuropediatrics
. 2009 Mar;
39(5):276-9.
PMID: 19294602
We report on a male proband with pyridoxine-dependent epilepsy (PDE) and neonatal seizure onset. At the age of 31 months, a prolonged status epilepticus led to severe neurological regression with...