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Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature. [electronic resource] by
- Cavicchi, Catia
- Chilleri, Chiara
- Fioravanti, Antonella
- Ferri, Lorenzo
- Ripandelli, Francesco
- Costa, Cinzia
- Calabresi, Paolo
- Prontera, Paolo
- Pochiero, Francesca
- Pasquini, Elisabetta
- Funghini, Silvia
- la Marca, Giancarlo
- Donati, Maria Alice
- Morrone, Amelia
Producer: 20180801
In:
International journal of molecular sciences vol. 19
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Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders. [electronic resource] by
- Meyburg, Jochen
- Opladen, Thomas
- Spiekerkötter, Ute
- Schlune, Andrea
- Schenk, Jens-Peter
- Schmidt, Jan
- Weitz, Jürgen
- Okun, Jürgen
- Bürger, Friederike
- Omran, Tawfeg Ben
- Abdoh, Ghassan
- Al Rifai, Hilal
- Monavari, Ahmad
- Konstantopoulou, Vassiliki
- Kölker, Stefan
- Yudkoff, Marc
- Hoffmann, Georg F
Producer: 20181218
In:
Journal of inherited metabolic disease vol. 41
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170.
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Glutamine and hyperammonemic crises in patients with urea cycle disorders. [electronic resource] by
- Lee, B
- Diaz, G A
- Rhead, W
- Lichter-Konecki, U
- Feigenbaum, A
- Berry, S A
- Le Mons, C
- Bartley, J
- Longo, N
- Nagamani, S C
- Berquist, W
- Gallagher, R C
- Harding, C O
- McCandless, S E
- Smith, W
- Schulze, A
- Marino, M
- Rowell, R
- Coakley, D F
- Mokhtarani, M
- Scharschmidt, B F
Producer: 20161024
In:
Molecular genetics and metabolism vol. 117
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172.
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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases. [electronic resource] by
- 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, Marshall
- Hoffmann, Georg F
- Kölker, Stefan
- Burgard, Peter
Producer: 20200401
In:
Journal of inherited metabolic disease vol. 42
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Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats. [electronic resource] by
- Zanatta, Ângela
- Moura, Alana Pimentel
- Tonin, Anelise Miotti
- Knebel, Lisiane Aurélio
- Grings, Mateus
- Lobato, Vannessa Araújo
- Ribeiro, César Augusto João
- Dutra-Filho, Carlos Severo
- Leipnitz, Guilhian
- Wajner, Moacir
Producer: 20131021
In:
Cellular and molecular neurobiology vol. 33
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178.
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Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013. [electronic resource] by
- Unsinn, Caroline
- Das, Anibh
- Valayannopoulos, Vassili
- Thimm, Eva
- Beblo, Skadi
- Burlina, Alberto
- Konstantopoulou, Vassiliki
- Mayorandan, Sebene
- de Lonlay, Pascale
- Rennecke, Jörg
- Derbinski, Jens
- Hoffmann, Georg F
- Häberle, Johannes
Producer: 20171107
In:
Orphanet journal of rare diseases vol. 11
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