Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria (English)
- New search for: Patay, Zoltan
- New search for: Orr, Brent A.
- New search for: Shulkin, Barry L.
- New search for: Hwang, Scott N.
- New search for: Ying, Yuan
- New search for: Broniscer, Alberto
- New search for: Boop, Frederick A.
- New search for: Ellison, David W.
- New search for: Patay, Zoltan
- New search for: Orr, Brent A.
- New search for: Shulkin, Barry L.
- New search for: Hwang, Scott N.
- New search for: Ying, Yuan
- New search for: Broniscer, Alberto
- New search for: Boop, Frederick A.
- New search for: Ellison, David W.
In:
Journal of Inherited Metabolic Disease
;
38
, 2
; 273-277
;
2014
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ISSN:
- Article (Journal) / Electronic Resource
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Title:Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduria
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Contributors:Patay, Zoltan ( author ) / Orr, Brent A. ( author ) / Shulkin, Barry L. ( author ) / Hwang, Scott N. ( author ) / Ying, Yuan ( author ) / Broniscer, Alberto ( author ) / Boop, Frederick A. ( author ) / Ellison, David W. ( author )
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Published in:Journal of Inherited Metabolic Disease ; 38, 2 ; 273-277
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Publisher:
- New search for: Springer Netherlands
- New search for: Wiley
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Place of publication:Hoboken, NJ
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Publication date:2014
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ISSN:
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ZDBID:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
- New search for: 44.48 / 44.33 / 44.48$jMedizinische Genetik / 44.33$jPhysiologische Chemie
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Keywords:
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Classification:
BKL: 44.48 Medizinische Genetik / 44.33 Physiologische Chemie / 44.48$jMedizinische Genetik / 44.33$jPhysiologische Chemie -
Source:
Table of contents – Volume 38, Issue 2
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 207
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Disease severity and clinical outcome in phosphosglucomutase deficiencyMorava, Eva / Wong, Sunnie / Lefeber, Dirk et al. | 2014
- 211
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Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregationKanabus, Marta / Shahni, Rojeen / Saldanha, José W. / Murphy, Elaine / Plagnol, Vincent / Hoff, William Van’t / Heales, Simon / Rahman, Shamima et al. | 2015
- 221
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The pathogenomics of McArdle disease—genes, enzymes, models, and therapeutic implicationsNogales-Gadea, Gisela / Santalla, Alfredo / Brull, Astrid / de Luna, Noemi / Lucia, Alejandro / Pinós, Tomàs et al. | 2014
- 231
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Adenylosuccinate lyase deficiencyJurecka, Agnieszka / Zikanova, Marie / Kmoch, Stanislav / Tylki-Szymańska, Anna et al. | 2014
- 243
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Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and functionBeamer, Lesa J. et al. | 2014
- 257
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Lung involvement in children with lysinuric protein intoleranceValimahamed-Mitha, Sarah / Berteloot, Laureline / Ducoin, Héloise / Ottolenghi, Chris / de Lonlay, Pascale / de Blic, Jacques et al. | 2014
- 265
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Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type IPosset, Roland / Opp, Silvana / Struys, Eduard A. / Völkl, Alfred / Mohr, Heribert / Hoffmann, Georg F. / Kölker, Stefan / Sauer, Sven W. / Okun, Jürgen G. et al. | 2014
- 273
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Successive distinct high-grade gliomas in L-2-hydroxyglutaric aciduriaPatay, Zoltan / Orr, Brent A. / Shulkin, Barry L. / Hwang, Scott N. / Ying, Yuan / Broniscer, Alberto / Boop, Frederick A. / Ellison, David W. et al. | 2014
- 279
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Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotypeBowron, Ann / Honeychurch, Julie / Williams, Maggie / Tsai-Goodman, Beverley / Clayton, Nicol / Jones, Lucy / Shortland, Graham J. / Qureshi, Shakeel A. / Heales, Simon J. R. / Steward, Colin G. et al. | 2014
- 287
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Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginateMelenovská, Petra / Kopecká, Jana / Krijt, Jakub / Hnízda, Aleš / Raková, Kateřina / Janošík, Miroslav / Wilcken, Bridget / Kožich, Viktor et al. | 2014
- 295
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White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imagingTimmers, Inge / Zhang, Hui / Bastiani, Matteo / Jansma, Bernadette M. / Roebroeck, Alard / Rubio-Gozalbo, M. Estela et al. | 2014
- 305
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Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe diseasevan Gelder, Carin M. / Hoogeveen-Westerveld, Marianne / Kroos, Marian A. / Plug, Iris / van der Ploeg, Ans T. / Reuser, Arnold J. J. et al. | 2014
- 315
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Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fastHaglind, C. Bieneck / Nordenström, A. / Ask, S. / von Döbeln, U. / Gustafsson, J. / Stenlid, M. Halldin et al. | 2014
- 323
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Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national surveyBrands, Marion M. G. / Güngör, Deniz / van den Hout, Johanna M. P. / Karstens, Francois P. J. / Oussoren, Esmee / Plug, Iris / Boelens, Jaap Jan / van Hasselt, Peter M. / Hollak, Carla E. M. / Mulder, Margot F. et al. | 2014
- 333
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Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type IIYokoi, Kentaro / Akiyama, Kazumasa / Kaneshiro, Eiko / Higuchi, Takashi / Shimada, Yohta / Kobayashi, Hiroshi / Akiyama, Masaharu / Otsu, Makoto / Nakauchi, Hiromitsu / Ohashi, Toya et al. | 2014
- 341
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Evaluation of enzyme dose and dose-frequency in ameliorating substrate accumulation in MPS IIIA Huntaway dog brainKing, Barbara / Marshall, Neil / Beard, Helen / Hassiotis, Sofia / Trim, Paul J. / Snel, Marten F. / Rozaklis, Tina / Jolly, Robert D. / Hopwood, John J. / Hemsley, Kim M. et al. | 2014
- 351
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Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapySuntjens, Eefje B. / Smid, Bouwien E. / Biegstraaten, Marieke / Dreschler, Wouter A. / Hollak, Carla E. M. / Linthorst, Gabor E. et al. | 2014
- 359
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Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective studyvan Geel, Björn M. / Poll-The, Bwee Tien / Verrips, Aad / Boelens, Jaap-Jan / Kemp, Stephan / Engelen, Marc et al. | 2014
- 363
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Look carefully to the heels! A potentially treatable cause of spastic paraplegiaSaute, Jonas Alex / Giugliani, Roberto / Merkens, Louise S. / Chiang, John (Pei-Wen) / DeBarber, Andrea E. / de Souza, Carolina Fischinger Moura et al. | 2014
- 365
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Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?Weisfeld-Adams, James D. / Baker, Peter R. et al. | 2014
- 367
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Raynaud’s phenomenon associated with Fabry diseaseGermain, Dominique P. / Atanasiu, Oana I. / Akrout-Marouene, Jouda / Benistan, Karelle et al. | 2014
- 369
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Screening for cerebrotendinous xanthomatosisPitt, James J. / Peters, Heidi et al. | 2014
- 371
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Should the beneficial impact of bezafibrate on fatty acid oxidation disorders be questioned?Bastin, Jean / Bonnefont, Jean-Paul / Djouadi, Fatima / Bresson, Jean-Louis et al. | 2014
- 373
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No effect of bezafibrate in patients with CPTII and VLCAD deficienciesØrngreen, Mette Cathrine / Vissing, John / Laforét, Pascal et al. | 2014
- 375
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Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonismVroegindeweij, L. H. P. / Boon, A. J. W. / Wilson, J. H. P. / Langendonk, J. G. et al. | 2014
- 377
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Erratum to: Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fastHaglind, C. Bieneck / Nordenström, A. / Ask, S. / von Döbeln, U. / Gustafsson, J. / Stenlid, M. Halldin et al. | 2014