Výsledky vyhledávání - "Thomas Scheffner"

Akademický článek

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

Autor: Bernd C. Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das, Janice Fletcher, Henk J Blom, Jean‐Francois Benoist, Bruce A. Barshop, Jaime J. Barea, Annette Feigenbaum

Publikováno v: JIMD Reports, Vol 52, Iss 1, Pp 3-10 (2020)

Abstract CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioni

Externí odkaz: https://doaj.org/article/84539154ffee4aaaab416f986c502c2b

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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Publikováno v: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29(4), 625-636. Nature Publishing Group
Scientia
European Journal of Human Genetics, In press, ⟨10.1038/s41431-020-00769-7⟩
European Journal of Human Genetics, 29, 4, pp. 625-636
European Journal of Human Genetics, 29, 625-636
European Journal of Human Genetics, 29(4), 625-636. SPRINGERNATURE

Trastornos del espectro autista; Prueba genética Trastorns de l'espectre autista; Prova genètica Autism spectrum disorders; Genetic testing Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::211d719da101010371b73dc1427c5fd2
https://hal.sorbonne-universite.fr/hal-03113281

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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

Autor: Jaime Barea, Bernd C. Schwahn, Annette Feigenbaum, A.M. Das, Bruce A. Barshop, Hedwig Stepman, Jean-François Benoist, Thomas Scheffner, Henk J. Blom, Patrick Verloo, Janice M. Fletcher

Publikováno v: JIMD reports, vol 52, iss 1
JIMD Reports, Vol 52, Iss 1, Pp 3-10 (2020)
JIMD REPORTS
JIMD Reports

CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4071444aaf4ddddc4e87df9c79262e74
https://escholarship.org/uc/item/4dd851kp

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Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

Autor: Holger Prokisch, Franz A. Zimmermann, Boris Rolinski, Johannes A. Mayr, Kurt Schlachter, Uwe Ahting, Wolfgang Sperl, Johannes Koch, Tobias B. Haack, Thomas Scheffner, Peter Freisinger

Publikováno v: Am. J. Hum. Genet. 89, 806-812 (2011)

Thiamine pyrophosphate (TPP) is an essential cofactor of the cytosolic transketolase and of three mitochondrial enzymes involved in the oxidative decarboxylation of either pyruvate, α-ketoglutarate or branched chain amino acids. Thiamine is taken up

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4d3a94d15db66e314212542567cea78
https://doi.org/10.1016/j.ajhg.2011.11.007

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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Autor: Patrick Van Bogaert, Kevin Farrell, David Webb, Kathy Leppig, Adela Della Marina, Richard Tomlinson, Peter E. Clayton, Baziel G.M. van Engelen, Todd Arthur, Vincent Laugel, Tom G.J. Hofste, C. Rauscher, Nadia Bahi-Buisson, Hans Holthausen, Stephanie Gross, F. Ebinger, Brigitte Chabrol, Rob Forsyth, Axel Panzer, Nils O. Nilsson, Michael Champion, Loreto Martorell, Ron A. Wevers, Marcel M. Verbeek, Inger Sandvig, Wilhelmina G. Leen, Christophe M. R. Rouselle, Maike Leferink, Katherine Lachlan, Bwee Tien Poll-The, Helen Mundy, Parol Sykora, Hans Scheffer, Bernhard Weschke, Ines Carrilho, Michèl A.A.P. Willemsen, Ming K. Lim, Athanasios Evangeliou, Joe McMenamin, Stephanie Grunewald, Jolita Bekhof, Marije E. C. Meuwissen, Christian de Goede, Thomas Scheffner, Elizabeth J. Donner, Joerg Klepper, John Trounce, Grazia M.S. Mancini, Eamonn Sheridan, Diana Ballhausen, Sandeep Jayawant, Neil Simpson, James Coldwell

Publikováno v: Brain, vol. 133, no. 3, pp. 655-670
Brain, 133, 655-70
Brain, 133, 655-670. Oxford University Press
Brain
Brain, 133(Part 3), 655-670. Oxford University Press
Brain, 133, Pt 3, pp. 655-70

Contains fulltext : 88466.pdf (Publisher’s version ) (Closed access) Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa23e89c1539e5d537691bf49ae6c1e
https://hdl.handle.net/2066/88466

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Hemoglobin A1c is a reliable criterion for diagnosing type 1 diabetes in childhood and adolescence

Autor: Stefan, Ehehalt, Nils, Gauger, Gunnar, Blumenstock, Lutz, Feldhahn, Thomas, Scheffner, Roland, Schweizer, Andreas, Neu, M, Witsch

Publikováno v: Pediatric diabetes. 11(7)

Ehehalt S, Gauger N, Blumenstock G, Feldhahn L, Scheffner T, Schweizer R, Neu A for the DIARY-Group Baden-Wuerttemberg. Hemoglobin A1c is a reliable criterion for diagnosing type 1 diabetes in childhood and adolescence. Background: Little is known ab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41abcc08f2b509903c98abed3d489a57
https://pubmed.ncbi.nlm.nih.gov/20149124

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