Výsledky vyhledávání - "S. Stoeckler-Ipsiroglu"

Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon

Autor: H Pokorny, B Wermuth, E Ploechl, W Ploechl, S Stoeckler-Ipsiroglu

Publikováno v: Clinical Genetics. 59:111-114

We report on late-onset ornithine transcarbamylase (OTC) deficiency in two families with mutations in the same codon, but different base substitutions. Onset of symptoms showed great variation, and five hemizygotes finally died. Clinical diagnosis wa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3bb5faa97a5fc36491610c8aee70ed39
https://doi.org/10.1034/j.1399-0004.2001.590208.x

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Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case

Autor: S. Mercimek-Mahmutoglu, S. Stoeckler-Ipsiroglu, Ivo Barić, M.S. van der Knaap, Daniela Prayer

Publikováno v: Mercimek-Mahmutoglu, S, Van Der Knaap, M S, Baric, I, Prayer, D & Stoeckler-Ipsiroglu, S 2005, ' Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Report of a new case ', Neuropediatrics, vol. 36, no. 3, pp. 223-226 . https://doi.org/10.1055/s-2005-865715
Neuropediatrics, 36(3), 223-226. Hippokrates Verlag GmbH

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome is a new neurodegenerative entity, which was first described by van der Knaap in 2002 in 7 patients aged from 2 months to 2 years. We describe a new, 42-month-old femal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d61cfb5b763ded3714e244ea557aa63c
https://research.vumc.nl/en/publications/45264a97-d5b6-418e-93c6-f5d17bfc3a03

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Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats

Autor: Barbara Plecko, C. Stromberger, C.A.J.M. Jakobs, S. Stoeckler-Ipsiroglu, M. Leschnik, A. Muehl, Eduard A. Struys, H. Hoeger

Publikováno v: Plecko, B, Hoeger, H, Jakobs, C A J M, Struys, E A, Stromberger, C, Leschnik, M, Muehl, A & Stockler-Ipsiroglu, S 2005, ' Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats ', Journal of Inherited Metabolic Disease, vol. 28, no. 5, pp. 689-693 . https://doi.org/10.1007/s10545-005-0071-4
Journal of Inherited Metabolic Disease, 28(5), 689-693. Springer Netherlands

Elevated concentrations of pipecolic acid have been reported in plasma and CSF of patients with pyridoxine-dependent epilepsy, but its molecular background is unclear. To investigate any further association of pyridoxine and pipecolic acid metabolism

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0bf1b78c734f4ff44580f9ad0e0e4d
https://research.vumc.nl/en/publications/b53eab49-543c-4b17-bce7-d396648569c2

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Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon

Autor: E, Ploechl, W, Ploechl, S, Stoeckler-Ipsiroglu, H, Pokorny, B, Wermuth

Publikováno v: Clinical genetics. 59(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eda88d9658c84001409b00f52754d0ff
https://pubmed.ncbi.nlm.nih.gov/11260212

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Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

Autor: W Strobl, Martina Huemer, R. J. A. Wanders, S. Stoeckler-Ipsiroglu, A. Muehl, K. Wandl-Vergesslich

Publikováno v: European journal of pediatrics, 157(9), 743-746. Springer Verlag

A 2.5-year-old boy presented with acute metabolic decompensation in whom 3-hydroxy-3-methyl-glutaryl-coenzyme A (HMG-CoA) lyase deficiency was diagnosed. Four days after metabolic decompensation, a stroke-like encephalopathy with tonic clonic convuls

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a793c3b207b9deb338191a90f3908de5
https://pubmed.ncbi.nlm.nih.gov/9776534

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