Structural white matter changes in adolescents and young adults with maple syrup urine disease (English)
- New search for: Klee, D.
- New search for: Thimm, E.
- New search for: Wittsack, H. J.
- New search for: Schubert, D.
- New search for: Primke, R.
- New search for: Pentang, G.
- New search for: Schaper, J.
- New search for: Mödder, U.
- New search for: Antoch, A.
- New search for: Wendel, U.
- New search for: Cohnen, M.
- New search for: Klee, D.
- New search for: Thimm, E.
- New search for: Wittsack, H. J.
- New search for: Schubert, D.
- New search for: Primke, R.
- New search for: Pentang, G.
- New search for: Schaper, J.
- New search for: Mödder, U.
- New search for: Antoch, A.
- New search for: Wendel, U.
- New search for: Cohnen, M.
In:
Journal of Inherited Metabolic Disease
;
36
, 6
; 945-953
;
2013
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ISSN:
- Article (Journal) / Electronic Resource
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Title:Structural white matter changes in adolescents and young adults with maple syrup urine disease
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Contributors:Klee, D. ( author ) / Thimm, E. ( author ) / Wittsack, H. J. ( author ) / Schubert, D. ( author ) / Primke, R. ( author ) / Pentang, G. ( author ) / Schaper, J. ( author ) / Mödder, U. ( author ) / Antoch, A. ( author ) / Wendel, U. ( author )
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Published in:Journal of Inherited Metabolic Disease ; 36, 6 ; 945-953
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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:2013
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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
- Further information on Basic classification
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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 36, Issue 6
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.
- 913
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3-Methylglutaconic aciduria—lessons from 50 genes and 977 patientsWortmann, Saskia B. / Kluijtmans, Leo A. J. / Rodenburg, Richard J. / Sass, Jörn Oliver / Nouws, Jessica / van Kaauwen, Edwin P. / Kleefstra, Tjitske / Tranebjaerg, Lisbeth / de Vries, Maaike C. / Isohanni, Pirjo et al. | 2013
- 923
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Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureWortmann, Saskia B. / Duran, Marinus / Anikster, Yair / Barth, Peter G. / Sperl, Wolfgang / Zschocke, Johannes / Morava, Eva / Wevers, Ron A. et al. | 2013
- 929
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Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndromeKarkucinska-Wieckowska, Agnieszka / Trubicka, Joanna / Werner, Bozena / Kokoszynska, Katarzyna / Pajdowska, Magdalena / Pronicki, Maciej / Czarnowska, Elzbieta / Lebiedzinska, Magdalena / Sykut-Cegielska, Jolanta / Ziolkowska, Lidia et al. | 2013
- 939
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Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixtureServais, A. / Arnoux, J. B. / Lamy, C. / Hummel, A. / Vittoz, N. / Katerinis, I. / Bazzaoui, V. / Dubois, S. / Broissand, C. / Husson, M. C. et al. | 2012
- 945
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Structural white matter changes in adolescents and young adults with maple syrup urine diseaseKlee, D. / Thimm, E. / Wittsack, H. J. / Schubert, D. / Primke, R. / Pentang, G. / Schaper, J. / Mödder, U. / Antoch, A. / Wendel, U. et al. | 2013
- 955
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In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuriaHo, Gladys / Reichardt, Juergen / Christodoulou, John et al. | 2013
- 961
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Mutations in the AGXT2L2 gene cause phosphohydroxylysinuriaVeiga-da-Cunha, Maria / Verhoeven-Duif, Nanda M. / de Koning, Tom J. / Duran, Marinus / Dorland, Bert / Van Schaftingen, Emile et al. | 2012
- 967
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S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementationHagebeuk, Eveline E. O. / Duran, Marinus / Abeling, Nico G. G. M. / Vyth, Arno / Poll-The, Bwee Tien et al. | 2013
- 973
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Carnitine supplementation attenuates myocardial lipid accumulation in long-chain acyl-CoA dehydrogenase knockout miceBakermans, Adrianus J. / van Weeghel, Michel / Denis, Simone / Nicolay, Klaas / Prompers, Jeanine J. / Houten, Sander M. et al. | 2013
- 983
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A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiencyShafqat, Naeem / Kavanagh, Kate L. / Sass, Jörn Oliver / Christensen, Ernst / Fukao, Toshiyuki / Lee, Wen Hwa / Oppermann, Udo / Yue, Wyatt W. et al. | 2013
- 989
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The brain in late-onset glycogenosis II: a structural and functional MRI studyBorroni, Barbara / Cotelli, M. S. / Premi, E. / Gazzina, S. / Cosseddu, M. / Formenti, A. / Gasparotti, R. / Filosto, M. / Padovani, A. et al. | 2013
- 997
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Transaldolase deficiency: report of 12 new cases and further delineation of the phenotypeEyaid, Wafaa / Al Harbi, Talal / Anazi, Shamsa / Wamelink, Mirjam M. C. / Jakobs, Cornelis / Al Salammah, Mohammad / Al Balwi, Mohammed / Alfadhel, Majid / Alkuraya, Fowzan S. et al. | 2013
- 1005
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Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgeryLampe, Christina / Lampe, Christian / Schwarz, Manfred / Müller-Forell, Wibke / Harmatz, Paul / Mengel, Eugen et al. | 2013
- 1015
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Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose studyBorgwardt, L. / Dali, C. I. / Fogh, J. / Månsson, J. E. / Olsen, K. J. / Beck, H. C. / Nielsen, K. G. / Nielsen, L. H. / Olsen, S. O. E. / Riise Stensland, H. M. F. et al. | 2013
- 1025
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Evoked potentails and neurocognitive functions in pediatric Egyptian Gaucher patients on enzyme replacement therapy: a single center experienceTantawy, Azza Abdel Gawad / Sherif, Eman Mounir / Adly, Amira Abdel Moneam / Hassanine, Sahar / Awad, Amina Hafez et al. | 2013
- 1039
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Retinal characteristics of the congenital disorder of glycosylation PMM2-CDGThompson, Dorothy A. / Lyons, Ruth J. / Russell-Eggitt, Isabelle / Liasis, Alki / Jägle, Herbert / Grünewald, Stephanie et al. | 2013
- 1049
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Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemiaRyan, Emily L. / Lynch, Mary Ellen / Taddeo, Elles / Gleason, Tyler J. / Epstein, Michael P. / Fridovich-Keil, Judith L. et al. | 2013
- 1063
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High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic PorphyriaSardh, Eliane / Wahlin, Staffan / Björnstedt, Mikael / Harper, Pauline / Andersson, Dan E. H. et al. | 2013
- 1073
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Increased human dermal microvascular endothelial cell survival induced by cysteamineBesouw, M. / van den Heuvel, L. / van Eijsden, R. / Bongaers, I. / Kluijtmans, L. / Dewerchin, M. / Levtchenko, E. et al. | 2013
- 1079
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Farber lipogranulomatosis with predominant joint involvement mimicking juvenile idiopathic arthritisKostik, Mikhail M. / Chikova, Irina A. / Avramenko, Vladislav V. / Vasyakina, Laly I. / Le Trionnaire, Emmanuelle / Chasnyk, Vyacheslav G. / Levade, Thierry et al. | 2013
- 1081
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Hypertrichosis in presymptomatic mitochondrial diseaseBaertling, Fabian / Mayatepek, Ertan / Distelmaier, Felix et al. | 2013
- 1083
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Disappearance of congenital noncompaction in hereditary cobalamin-C-deficiency 2.5 years after birthFinsterer, Josef / Stöllberger, Claudia et al. | 2013
- 1085
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Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C diseaseTanpaiboon, Pranoot / Venditti, Charles P. et al. | 2013
- 1087
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Unknown pathomechanisms of renal impairment in PKUHennermann, Julia B. / Querfeld, Uwe et al. | 2013
- 1089
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Erratum to: Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytesBurke, Derek G. / Rahim, Ahad A. / Waddington, Simon N. / Karlsson, Stefan / Enquist, Ida / Bhatia, Kailash / Mehta, Atul / Vellodi, Ashok / Heales, Simon et al. | 2013