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Consortium of Swiss Academic Libraries

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

Abdalla, Ebtesam ; Rohrbach, Marianne ; Bürer, Céline ; Kraenzlin, Marius ; El-Tayeby, Hazem ; Elbelbesy, Mervat ; Nabil, Amira ; Giunta, Cecilia

In: European Journal of Pediatrics, 2015, vol. 174, no. 1, p. 105-112

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

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

Consortium of Swiss Academic Libraries

CRIM-negative infantile Pompe disease: 42-month treatment outcome

Rohrbach, Marianne ; Klein, Andrea ; Köhli-Wiesner, Alice ; Veraguth, Dorothe ; Scheer, Ianina ; Balmer, Christian ; Lauener, Roger ; Baumgartner, Matthias

In: Journal of Inherited Metabolic Disease, 2010, vol. 33, no. 6, p. 751-757

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