Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing

por Isler, Jasmine, Rüfenacht, Véronique, Gemperle, Corinne, Allegri, Gabriella, Häberle, Johannes
Publicado 2020

Recovery of enzyme activity in biotinidase deficient individuals during early childhood

por Forny, Patrick, Wicht, Andrea, Rüfenacht, Véronique, Cremonesi, Alessio, Häberle, Johannes
Publicado 2022

Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

por Spodenkiewicz, Marta, Diez-Fernandez, Carmen, Rüfenacht, Véronique, Gemperle-Britschgi, Corinne, Häberle, Johannes
Publicado 2016

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report

por Zekušić, Marija, Škaričić, Ana, Fumić, Ksenija, Rogić, Dunja, Žigman, Tamara, Petković Ramadža, Danijela, Vukojević, Nenad, Rüfenacht, Véronique, Uroić, Valentina, Barić, Ivo
Publicado 2018

Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

por Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz
Publicado 2015

Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

por Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz
Publicado 2015

Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency

por Laemmle, Alexander, Poms, Martin, Hsu, Bernadette, Borsuk, Mariia, Rüfenacht, Véronique, Robinson, Joshua, Sadowski, Martin C., Nuoffer, Jean‐Marc, Häberle, Johannes, Willenbring, Holger
Publicado 2021

Impact of small molecule‐mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism

por Makris, Georgios, Kayhan, Semih, Kreuzer, Marvin, Rüfenacht, Véronique, Faccin, Erica, Underhaug, Jarl, Diez‐Fernandez, Carmen, Knobel, Philip A., Poms, Martin, Gougeard, Nadine, Rubio, Vicente, Martinez, Aurora, Pruschy, Martin, Häberle, Johannes
Publicado 2023

Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene

por Adamsen, Dea, Ramaekers, Vincent, Ho, Horace TB, Britschgi, Corinne, Rüfenacht, Véronique, Meili, David, Bobrowski, Elise, Philippe, Paule, Nava, Caroline, Van Maldergem, Lionel, Bruggmann, Rémy, Walitza, Susanne, Wang, Joanne, Grünblatt, Edna, Thöny, Beat
Publicado 2014

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

por Bijarnia-Mahay, Sunita, Häberle, Johannes, Jalan, Anil B., Puri, Ratna Dua, Kohli, Sudha, Kudalkar, Ketki, Rüfenacht, Véronique, Gupta, Deepti, Maurya, Deepshikha, Verma, Jyotsna, Shigematsu, Yosuke, Yamaguchi, Seiji, Saxena, Renu, Verma, Ishwar C.
Publicado 2018

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

por Williams, Monique, Burlina, Alberto, Rubert, Laura, Polo, Giulia, Ruijter, George J. G., van den Born, Myrthe, Rüfenacht, Véronique, Haskins, Nantaporn, van Zutven, Laura J. C. M., Tuchman, Mendel, Saris, Jasper J., Häberle, Johannes, Caldovic, Ljubica
Publicado 2018

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

por Soria, Leandro R., Makris, Georgios, D’Alessio, Alfonso M., De Angelis, Angela, Boffa, Iolanda, Pravata, Veronica M., Rüfenacht, Véronique, Attanasio, Sergio, Nusco, Edoardo, Arena, Paola, Ferenbach, Andrew T., Paris, Debora, Cuomo, Paola, Motta, Andrea, Nitzahn, Matthew, Lipshutz, Gerald S., Martínez-Pizarro, Ainhoa, Richard, Eva, Desviat, Lourdes R., Häberle, Johannes, van Aalten, Daan M. F., Brunetti-Pierri, Nicola
Publicado 2022