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Author/Creator Garcia‐Cazorla, Angeles

1. AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients. Issue 5 (14th May 2020)

Authors:
Pearson, Toni S.; Gilbert, Laura; Opladen, Thomas; Garcia‐Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K. H.; Sykut‐Cegielska, Jolanta; Pons, Roser; Mercimek‐Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A.; Steel, Dora; Manti, Filippo; Meeks...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 5(2020)
Page Start:
1121
Record Type:
Journal Article
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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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3. 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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4. Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Issue 1 (30th November 2016)

Authors:
Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean‐Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L.; Garcia‐Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld‐Adams, James D.; Kožich, Viktor; Blom, Hen...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 1(2017)
Page Start:
21
Record Type:
Journal Article
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5. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders. Issue 1 (13th May 2019)

Authors:
Posset, Roland; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Burrage, Lindsay C.; Bedoyan, Jirair K.; Wong, Derek; Berry, Gerard T.; Baumgartner, Matthias R.; Yudkoff, Marc; Zielonka, Matthias; Hoffmann, Georg F.; Burgard, Peter; Schulze, Andreas; McCandless, Shawn E.; Garcia‐Cazorla, Angeles; Se...
Other Names:
Lee Brendan investigator.; Harding Cary O. investigator.; Coughlin Curtis R. investigator.; Le Mons Cynthia investigator.; Dobbelaere Dries investigator.; Leão Teles Elisa investigator.; Cortès‐Saladelafont Elisenda investigator.; Gleich Florian investigator.; Eyskens Francois investigator.; Enns...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 1(2019)
Page Start:
116
Record Type:
Journal Article
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7. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases. Issue 1 (11th February 2019)

Authors:
Posset, Roland; Garbade, Sven F.; Boy, Nikolas; Burlina, Alberto B.; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Garcia‐Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Mew, Nicholas Ah; Batshaw, Mark L.; Baumgartner, Matthias R.; McCandless, Shawn E.; Seminara, Jennifer; Summar...
Other Names:
Berry Susan A. investigator.; Burrage Lindsay investigator.; Coughlin Curtis investigator.; Diaz George A. investigator.; Gallagher Renata C. investigator.; Gropman Andrea investigator.; Harding Cary O. investigator.; Lee Brendan investigator.; Le Mons Cynthia investigator.; Lawrence Merritt J. i...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
93
Record Type:
Journal Article
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8. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases. Issue 1 (11th February 2019)

Authors:
Posset, Roland; Garbade, Sven F.; Boy, Nikolas; Burlina, Alberto B.; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Garcia‐Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Mew, Nicholas Ah.; Batshaw, Mark L.; Baumgartner, Matthias R.; McCandless, Shawn; Seminara, Jennifer; Summar, ...
Other Names:
Bloxam Sondra investigator.; Brody Linnea investigator.; Caspi Liora investigator.; Elsbecker Sara investigator.; Fierro Luca investigator.; Lynn Audrey investigator.; Mullins Mary investigator.; Mütze Ulrike investigator.; Papaleo Cassandra investigator.; Payan Irma investigator.; Seminara Jenni...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
93
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗