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Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. [electronic resource] by
- Molema, Femke
- Gleich, Florian
- Burgard, Peter
- van der Ploeg, Ans T
- Summar, Marshall L
- Chapman, Kimberly A
- Barić, Ivo
- Lund, Allan M
- Kölker, Stefan
- Williams, Monique
Producer: 20200824
In:
Journal of inherited metabolic disease vol. 42
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264.
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265.
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Living donor liver transplantation for pediatric patients with metabolic disorders: the Japanese multicenter registry. [electronic resource] by
- Kasahara, Mureo
- Sakamoto, Seisuke
- Horikawa, Reiko
- Koji, Umeshita
- Mizuta, Koichi
- Shinkai, Masato
- Takahito, Yagi
- Taguchi, Tomoaki
- Inomata, Yukihiro
- Uemoto, Shinji
- Tatsuo, Kuroda
- Kato, Shunichi
Producer: 20140926
In:
Pediatric transplantation vol. 18
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266.
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267.
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Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. [electronic resource] by
- Huemer, Martina
- Carvalho, Daniel R
- Brum, Jaime M
- Ünal, Özlem
- Coskun, Turgay
- Weisfeld-Adams, James D
- Schrager, Nina L
- Scholl-Bürgi, Sabine
- Schlune, Andrea
- Donner, Markus G
- Hersberger, Martin
- Gemperle, Claudio
- Riesner, Brunhilde
- Ulmer, Hanno
- Häberle, Johannes
- Karall, Daniela
Producer: 20171207
In:
Journal of inherited metabolic disease vol. 39
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268.
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Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. [electronic resource] by
- Rüegger, Corinne M
- Lindner, Martin
- Ballhausen, Diana
- Baumgartner, Matthias R
- Beblo, Skadi
- Das, Anibh
- Gautschi, Matthias
- Glahn, Esther M
- Grünert, Sarah C
- Hennermann, Julia
- Hochuli, Michel
- Huemer, Martina
- Karall, Daniela
- Kölker, Stefan
- Lachmann, Robin H
- Lotz-Havla, Amelie
- Möslinger, Dorothea
- Nuoffer, Jean-Marc
- Plecko, Barbara
- Rutsch, Frank
- Santer, René
- Spiekerkoetter, Ute
- Staufner, Christian
- Stricker, Tamar
- Wijburg, Frits A
- Williams, Monique
- Burgard, Peter
- Häberle, Johannes
Producer: 20140909
In:
Journal of inherited metabolic disease vol. 37
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269.
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Dietary management of urea cycle disorders: European practice. [electronic resource] by
- Adam, S
- Almeida, M F
- Assoun, M
- Baruteau, J
- Bernabei, S M
- Bigot, S
- Champion, H
- Daly, A
- Dassy, M
- Dawson, S
- Dixon, M
- Dokoupil, K
- Dubois, S
- Dunlop, C
- Evans, S
- Eyskens, F
- Faria, A
- Favre, E
- Ferguson, C
- Goncalves, C
- Gribben, J
- Heddrich-Ellerbrok, M
- Jankowski, C
- Janssen-Regelink, R
- Jouault, C
- Laguerre, C
- Le Verge, S
- Link, R
- Lowry, S
- Luyten, K
- Macdonald, A
- Maritz, C
- McDowell, S
- Meyer, U
- Micciche, A
- Robert, M
- Robertson, L V
- Rocha, J C
- Rohde, C
- Saruggia, I
- Sjoqvist, E
- Stafford, J
- Terry, A
- Thom, R
- Vande Kerckhove, K
- van Rijn, M
- van Teeffelen-Heithoff, A
- Wegberg, A van
- van Wyk, K
- Vasconcelos, C
- Vestergaard, H
- Webster, D
- White, F J
- Wildgoose, J
- Zweers, H
Producer: 20140616
In:
Molecular genetics and metabolism vol. 110
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271.
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Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy. [electronic resource] by
- Raina, Rupesh
- Bedoyan, Jirair K
- Lichter-Konecki, Uta
- Jouvet, Philippe
- Picca, Stefano
- Mew, Nicholas Ah
- Machado, Marcel C
- Chakraborty, Ronith
- Vemuganti, Meghana
- Grewal, Manpreet K
- Bunchman, Timothy
- Sethi, Sidharth Kumar
- Krishnappa, Vinod
- McCulloch, Mignon
- Alhasan, Khalid
- Bagga, Arvind
- Basu, Rajit K
- Schaefer, Franz
- Filler, Guido
- Warady, Bradley A
Producer: 20201106
In:
Nature reviews. Nephrology vol. 16
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272.
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273.
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. [electronic resource] by
- Kölker, Stefan
- Valayannopoulos, Vassili
- Burlina, Alberto B
- Sykut-Cegielska, Jolanta
- Wijburg, Frits A
- Teles, Elisa Leão
- Zeman, Jiri
- Dionisi-Vici, Carlo
- Barić, Ivo
- Karall, Daniela
- Arnoux, Jean-Baptiste
- Avram, Paula
- Baumgartner, Matthias R
- Blasco-Alonso, Javier
- Boy, S P Nikolas
- Rasmussen, Marlene Bøgehus
- Burgard, Peter
- Chabrol, Brigitte
- Chakrapani, Anupam
- Chapman, Kimberly
- Cortès I Saladelafont, Elisenda
- Couce, Maria L
- de Meirleir, Linda
- Dobbelaere, Dries
- Furlan, Francesca
- Gleich, Florian
- González, Maria Julieta
- Gradowska, Wanda
- Grünewald, Stephanie
- Honzik, Tomas
- Hörster, Friederike
- Ioannou, Hariklea
- Jalan, Anil
- Häberle, Johannes
- Haege, Gisela
- Langereis, Eveline
- de Lonlay, Pascale
- Martinelli, Diego
- Matsumoto, Shirou
- Mühlhausen, Chris
- Murphy, Elaine
- de Baulny, Hélène Ogier
- Ortez, Carlos
- Pedrón, Consuelo C
- Pintos-Morell, Guillem
- Pena-Quintana, Luis
- Ramadža, Danijela Petković
- Rodrigues, Esmeralda
- Scholl-Bürgi, Sabine
- Sokal, Etienne
- Summar, Marshall L
- Thompson, Nicholas
- Vara, Roshni
- Pinera, Inmaculada Vives
- Walter, John H
- Williams, Monique
- Lund, Allan M
- Garcia-Cazorla, Angeles
- Garcia Cazorla, Angeles
Producer: 20160920
In:
Journal of inherited metabolic disease vol. 38
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274.
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276.
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277.
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278.
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279.
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Creatine biosynthesis and transport in health and disease. [electronic resource] by
- Joncquel-Chevalier Curt, Marie
- Voicu, Pia-Manuela
- Fontaine, Monique
- Dessein, Anne-Frédérique
- Porchet, Nicole
- Mention-Mulliez, Karine
- Dobbelaere, Dries
- Soto-Ares, Gustavo
- Cheillan, David
- Vamecq, Joseph
Producer: 20161213
In:
Biochimie vol. 119
Availability: No items available.
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