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Author/Creator Zeman, Jiri

2. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Issue 5 (22nd April 2016)

Authors:
Posset, Roland; Garcia‐Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi‐Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B.; Burgard, Peter; Cortès‐Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L.; Sykut‐Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M.; Chakrapa...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
661
Record Type:
Journal Article
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4. B12 Longitudinal view of mitochondrial bioenergetics in skeletal muscle of premanifest transgenic minipig model for huntington's disease. (September 2018)

Authors:
Rodinova, Marie; Krizova, Jana; Stufkova, Hana; Bohuslavova, Bozena; Askeland, Georgina; Dosoudilova, Zaneta; Juhas, Stefan; Ellederova, Zdenka; Zeman, Jiri; Eide, Lars; Motlik, Jan; Hansikova, Hana
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 89(2018)Supplement 1
Page Start:
A23
Record Type:
Journal Article
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5. Behavioural and emotional problems, intellectual impairment and health‐related quality of life in patients with organic acidurias and urea cycle disorders. Issue 2 (27th August 2015)

Authors:
Jamiolkowski, Dagmar; Kölker, Stefan; Glahn, Esther M.; Barić, Ivo; Zeman, Jiri; Baumgartner, Matthias R.; Mühlhausen, Chris; Garcia‐Cazorla, Angels; Gleich, Florian; Haege, Gisela; Burgard, Peter
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 2(2016)
Page Start:
231
Record Type:
Journal Article
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6. C18 The hunt for biomarkers in presymptomatic large animal model: mitochondrial metabolism in spermatozoa of transgenic minipigs modelling huntington's disease. (13th September 2016)

Authors:
Krizova, Jana; Stufkova, Hana; Rodinova, Marie; Macakova, Monika; Bohuslavova, Bozena; Pavlok, Antonin; Ellederova, Zdenka; Motlik, Jan; Zeman, Jiri; Hansikova, Hana
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 87(2016)Supplement 1
Page Start:
A33
Record Type:
Journal Article
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7. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. Issue 1 (30th May 2015)

Authors:
Huemer, Martina; Mulder‐Bleile, Regina; Burda, Patricie; Froese, D. Sean; Suormala, Terttu; Zeev, Bruria Ben; Chinnery, Patrick F.; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Gökcay, Gülden; Demirkol, Mübeccel; Häberle, Johannes; Lossos, Alexander; Mengel, Eugen; Morris, Andrew A.; Niezen‐Koning, Kl...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 1(2016)
Page Start:
115
Record Type:
Journal Article
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8. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Issue 4 (12th January 2018)

Authors:
Posset, Roland; Garcia‐Cazorla, Angeles; Valayannopoulos, Vassili; Leão Teles, Elisa; Dionisi‐Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B.; Burgard, Peter; Cortès‐Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L.; Sykut‐Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M.; Chakrapa...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 4(2018)
Page Start:
743
Record Type:
Journal Article
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9. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias. Issue 4 (12th December 2017)

Authors:
Heringer, Jana; Valayannopoulos, Vassili; Lund, Allan M.; Wijburg, Frits A.; Freisinger, Peter; Barić, Ivo; Baumgartner, Matthias R.; Burgard, Peter; Burlina, Alberto B.; Chapman, Kimberly A.; i Saladelafont, Elisenda Cortès; Karall, Daniela; Mühlhausen, Chris; Riches, Victoria; Schiff, Manuel; S...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 4(2018)
Page Start:
741
Record Type:
Journal Article
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10. Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment. (13th July 2018)

Authors:
Tylki‐Szymańska, Anna; De Meirleir, Linda; Di Rocco, Maja; Fathalla, Waseem M.; Guffon, Nathalie; Lampe, Christina; Lund, Allan M.; Parini, Rossella; Wijburg, Frits A.; Zeman, Jiri; Scarpa, Maurizio
Journal:
Acta pædiatrica
Issue:
Volume 107:Number 8(2018)
Page Start:
1402
Record Type:
Journal Article
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