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Author/Creator Nuoffer, Jean‐Marc

1. A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency. Issue 6 (2nd April 2019)

Authors:
Srinivasan, Raghuraman C.; Zabulica, Mihaela; Hammarstedt, Christina; Wu, Tingting; Gramignoli, Roberto; Kannisto, Kristina; Ellis, Ewa; Karadagi, Ahmad; Fingerhut, Ralph; Allegri, Gabriella; Rüfenacht, Véronique; Thöny, Beat; Häberle, Johannes; Nuoffer, Jean‐Marc; Strom, Stephen C.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 6(2019)
Page Start:
1054
Record Type:
Journal Article
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2. An overview of combined D‐2‐ and L‐2‐hydroxyglutaric aciduria: functional analysis of CIC variants. Issue 2 (13th December 2017)

Authors:
Pop, Ana; Williams, Monique; Struys, Eduard A.; Monné, Magnus; Jansen, Erwin E. W.; De Grassi, Anna; Kanhai, Warsha A.; Scarcia, Pasquale; Ojeda, Matilde R. Fernandez; Porcelli, Vito; van Dooren, Silvy J. M.; Lennertz, Pascal; Nota, Benjamin; Abdenur, Jose E.; Coman, David; Das, Anibh Martin; El‐...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 2(2018)
Page Start:
169
Record Type:
Journal Article
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3. Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency. Issue 3 (18th December 2021)

Authors:
Laemmle, Alexander; Poms, Martin; Hsu, Bernadette; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; Sadowski, Martin C.; Nuoffer, Jean‐Marc; Häberle, Johannes; Willenbring, Holger
Journal:
Hepatology
Issue:
Volume 76:Issue 3(2022)
Page Start:
646
Record Type:
Journal Article
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4. Argininosuccinate neurotoxicity and prevention by creatine in argininosuccinate lyase deficiency: An in vitro study in rat three‐dimensional organotypic brain cell cultures. Issue 6 (14th April 2019)

Authors:
Diez‐Fernandez, Carmen; Hertig, Damian; Loup, Marc; Diserens, Gaelle; Henry, Hugues; Vermathen, Peter; Nuoffer, Jean‐Marc; Häberle, Johannes; Braissant, Olivier
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 6(2019)
Page Start:
1077
Record Type:
Journal Article
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5. Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders. Issue 1 (19th June 2013)

Authors:
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; Mösli...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 1(2014)
Page Start:
21
Record Type:
Journal Article
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6. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. (13th March 2015)

Authors:
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C.; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohd...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 2:Number 5(2015:May)
Page Start:
492
Record Type:
Journal Article
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7. Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient. Issue 6 (28th April 2022)

Authors:
Gschwind, Markus; Garcia Segarra, Nuria; Schaller, André; Bolognini, Ramona; Nuoffer, Jean‐Marc; Hourez, Raphael; Deprez, Manuel; Lhermitte, Benoit; Maeder, Philippe; Tran, Christel; Kuntzer, Thierry
Journal:
Annals of clinical and translational neurology
Issue:
Volume 9:Issue 6(2022)
Page Start:
888
Record Type:
Journal Article
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