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11 Ergebnisse 1 2
Postprint
Consortium of Swiss Academic Libraries

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

Hu, Liyan ; Pandey, Amit ; Balmer, Cécile ; Eggimann, Sandra ; Rüfenacht, Véronique ; Nuoffer, Jean-Marc ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 5, p. 815-827

Postprint
Consortium of Swiss Academic Libraries

Secondary NAD+ deficiency in the inherited defect of glutamine synthetase

Hu, Liyan ; Ibrahim, Khalid ; Stucki, Martin ; Frapolli, Michele ; Shahbeck, Noora ; Chaudhry, Farrukh ; Görg, Boris ; Häussinger, Dieter ; Penberthy, W. ; Ben-Omran, Tawfeg ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2015, vol. 38, no. 6, p. 1075-1083

Postprint
Consortium of Swiss Academic Libraries

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Fischer, Sabine ; Huemer, Martina ; Baumgartner, Matthias ; Deodato, Federica ; Ballhausen, Diana ; Boneh, Avihu ; Burlina, Alberto ; Cerone, Roberto ; Garcia, Paula ; Gökçay, Gülden ; Grünewald, Stephanie ; Häberle, Johannes ; Jaeken, Jaak ; Ketteridge, David ; Lindner, Martin ; Mandel, Hanna ; Martinelli, Diego ; Martins, Esmeralda ; Schwab, Karl ; Gruenert, Sarah ; Schwahn, Bernd ; Sztriha, László ; Tomaske, Maren ; Trefz, Friedrich ; Vilarinho, Laura ; Rosenblatt, David ; Fowler, Brian ; Dionisi-Vici, Carlo

In: Journal of Inherited Metabolic Disease, 2014, vol. 37, no. 5, p. 831-840

Postprint
Consortium of Swiss Academic Libraries

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy

Laemmle, Alexander ; Balmer, Christian ; Doell, Carsten ; Sass, Jörn ; Häberle, Johannes ; Baumgartner, Matthias

In: European Journal of Pediatrics, 2014, vol. 173, no. 7, p. 971-974

Postprint
Consortium of Swiss Academic Libraries

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Rüegger, Corinne ; Lindner, Martin ; Ballhausen, Diana ; Baumgartner, Matthias ; Beblo, Skadi ; Das, Anibh ; Gautschi, Matthias ; Glahn, Esther ; Grünert, Sarah ; Hennermann, Julia ; Hochuli, Michel ; Huemer, Martina ; Karall, Daniela ; Kölker, Stefan ; Lachmann, Robin ; Lotz-Havla, Amelie ; Möslinger, Dorothea ; Nuoffer, Jean-Marc ; Plecko, Barbara ; Rutsch, Frank ; Santer, René ; Spiekerkoetter, Ute ; Staufner, Christian ; Stricker, Tamar ; Wijburg, Frits ; Williams, Monique ; Burgard, Peter ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2014, vol. 37, no. 1, p. 21-30

Postprint
Consortium of Swiss Academic Libraries

Clinical practice : The management of hyperammonemia

Häberle, Johannes

In: European Journal of Pediatrics, 2011, vol. 170, no. 1, p. 21-34

Postprint
Consortium of Swiss Academic Libraries

Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples

Fingerhut, Ralph ; De Jesus Silva Arevalo, Gabriel ; Baumgartner, Matthias ; Häberle, Johannes ; Rohrbach, Marianne ; Figueroa, Andrés ; Fresse, Elena ; Polanco, Olga ; Torresani, Toni

In: Journal of Inherited Metabolic Disease, 2010, vol. 33, p. 235-239

Postprint
Consortium of Swiss Academic Libraries

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Kretz, Rita ; Bozorgmehr, Bita ; Kariminejad, Mohamad ; Rohrbach, Marianne ; Hausser, Ingrid ; Baumer, Alessandra ; Baumgartner, Matthias ; Giunta, Cecilia ; Kariminejad, Ariana ; Häberle, Johannes

In: Journal of Inherited Metabolic Disease, 2011, vol. 34, no. 3, p. 731-739

Postprint
Consortium of Swiss Academic Libraries

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in - vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

Engel, Katharina ; Vuissoz, Jean-Marc ; Eggimann, Sandra ; Groux, Murielle ; Berning, Christoph ; Hu, Liyan ; Klaus, Vera ; Moeslinger, Dorothea ; Mercimek-Mahmutoglu, Saadet ; Stöckler, Sylvia ; Wermuth, Bendicht ; Häberle, Johannes ; Nuoffer, Jean-Marc

In: Journal of Inherited Metabolic Disease, 2012, vol. 35, no. 1, p. 133-140

Postprint
Consortium of Swiss Academic Libraries

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

Schiff, Manuel ; Haberberger, Birgit ; Xia, Chuanwu ; Mohsen, Al-Walid ; Goetzman, Eric S. ; Wang, Yudong ; Uppala, Radha ; Zhang, Yuxun ; Karunanidhi, Anuradha ; Prabhu, Dolly ; Alharbi, Hana ; Prochownik, Edward V. ; Haack, Tobias ; Häberle, Johannes ; Munnich, Arnold ; Rötig, Agnes ; Taylor, Robert W. ; Nicholls, Robert D. ; Kim, Jung-Ja ; Prokisch, Holger ; Vockley, Jerry

In: Human Molecular Genetics, 2015, vol. 24, no. 11, p. 3238-3247

11 Ergebnisse 1 2