Biochemical changes and clinical outcomes in 34 patients with classic galactosemia (English)
- New search for: Yuzyuk, T.
- New search for: Viau, K.
- New search for: Andrews, A.
- New search for: Pasquali, M.
- New search for: Longo, N.
- New search for: Yuzyuk, T.
- New search for: Viau, K.
- New search for: Andrews, A.
- New search for: Pasquali, M.
- New search for: Longo, N.
In:
JOURNAL OF INHERITED METABOLIC DISEASE
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41
, 2
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197-208
;
2018
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ISSN:
- Article (Journal) / Print
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Title:Biochemical changes and clinical outcomes in 34 patients with classic galactosemia
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Contributors:Yuzyuk, T. ( author ) / Viau, K. ( author ) / Andrews, A. ( author ) / Pasquali, M. ( author ) / Longo, N. ( author )
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Published in:JOURNAL OF INHERITED METABOLIC DISEASE ; 41, 2 ; 197-208
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Publisher:
- New search for: Springer Science + Business Media
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Publication date:2018-01-01
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Size:12 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 616.39
- Further information on Dewey Decimal Classification
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Classification:
DDC: 616.39 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 41, 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.
- 155
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- 157
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Propionyl‐CoA carboxylase pcca‐1 and pccb‐1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolismChapman, Kimberly A. / Ostrovsky, Julian / Rao, Meera / Dingley, Stephen D. / Polyak, Erzsebet / Yudkoff, Marc / Xiao, Rui / Bennett, Michael J. / Falk, Marni J. et al. | 2018
- 169
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An overview of combined D‐2‐ and L‐2‐hydroxyglutaric aciduria: functional analysis of CIC variantsPop, Ana / Williams, Monique / Struys, Eduard A. / Monné, Magnus / Jansen, Erwin E. W. / De Grassi, Anna / Kanhai, Warsha A. / Scarcia, Pasquale / Ojeda, Matilde R. Fernandez / Porcelli, Vito et al. | 2018
- 181
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Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a dayKienstra, Nienke S. / van Reemst, Hannah E. / van Ginkel, Willem G. / Daly, Anne / van Dam, Esther / MacDonald, Anita / Burgerhof, Johannes G. M. / de Blaauw, Pim / McKiernan, Patrick J. / Heiner‐Fokkema, M. Rebecca et al. | 2018
- 187
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A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturationMayr, Simon Julius / Sass, Jörn Oliver / Vry, Julia / Kirschner, Janbernd / Mader, Irina / Hövener, Jan‐Bernd / Reiss, Jochen / Santamaria‐Araujo, José Angel / Schwarz, Günter / Grünert, Sarah Catharina et al. | 2018
- 197
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Biochemical changes and clinical outcomes in 34 patients with classic galactosemiaYuzyuk, Tatiana / Viau, Krista / Andrews, Ashley / Pasquali, Marzia / Longo, Nicola et al. | 2018
- 209
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Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East ItalyBurlina, Alberto B. / Polo, Giulia / Salviati, Leonardo / Duro, Giovanni / Zizzo, Carmela / Dardis, Andrea / Bembi, Bruno / Cazzorla, Chiara / Rubert, Laura / Zordan, Roberta et al. | 2018
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- 239
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Globotriaosylsphingosine (Lyso‐Gb3) as a biomarker for cardiac variant (N215S) Fabry diseaseAlharbi, Fahad J. / Baig, Shanat / Auray‐Blais, Christiane / Boutin, Michel / Ward, Douglas G. / Wheeldon, Nigel / Steed, Rick / Dawson, Charlotte / Hughes, Derralynn / Geberhiwot, Tarekegn et al. | 2018
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Coagulopathy in Zellweger spectrum disorders: a role for vitamin KZeynelabidin, Sara / Klouwer, Femke C. C. / Meijers, Joost C. M. / Suijker, Monique H. / Engelen, Marc / Poll‐The, Bwee Tien / van Ommen, C. Heleen et al. | 2018
- 257
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- 263
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Correlation between the molecular effects of mutations at the dimer interface of alanine–glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6Dindo, Mirco / Oppici, Elisa / Dell'Orco, Daniele / Montone, Rosa / Cellini, Barbara et al. | 2018
- 277
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Avascular necrosis after long‐term glucocorticoid treatment in MELAS: a cautionary noteChoi, Han Som / Lee, Jae Hyun / Lee, Sun Ho / Lee, Young‐Mock et al. | 2018
- 279
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