Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

by Karim Gariani, Marina Nascimento, Andrea Superti-Furga, Christel Tran
Published 2020-08-01

Skeletal Dysplasias Caused by Sulfation Defects

by Chiara Paganini, Chiara Gramegna Tota, Andrea Superti-Furga, Antonio Rossi
Published 2020-04-01

Report of a novel mutation in the SLC26A2 gene foud in a colomian adult patient with diastrophic dysplasia

by Tatiana Pineda, Antonio Rossi, Luisa Bonafe, Andrea Superti Furga, Harvy M. Velasco
Published 2013-07-01

Spinal cerebrotendinous xanthomatosis: A case report and literature review

by Isis Atallah, Diego San Millán, Wicki Benoît, Belinda Campos-Xavier, Andrea Superti-Furga, Christel Tran
Published 2021-03-01

Elevated lactate in Mauriac syndrome: still a mystery

by Brice Touilloux, Henri Lu, Belinda Campos-Xavier, Andrea Superti-Furga, Michael Hauschild, Thérèse Bouthors, Christel Tran
Published 2021-08-01

Correction to: Elevated lactate in Mauriac syndrome: still a mystery

by Brice Touilloux, Henri Lu, Belinda Campos-Xavier, Andrea Superti-Furga, Michael Hauschild, Thérèse Bouthors, Christel Tran
Published 2021-09-01

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

by Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel-Butschi, Laureane Mittaz-Crettol, Heidi Fodstad, Andrea Superti-Furga
Published 2021-09-01

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges

by Jean-Marc Good, Isis Atallah, Mayte Castro Jimenez, David Benninger, Thierry Kuntzer, Andrea Superti-Furga, Christel Tran
Published 2021-05-01

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

by Bettina Härter, Francesco Benedicenti, Daniela Karall, Ekkehard Lausch, Gisela Schweigmann, Franco Stanzial, Andrea Superti‐Furga, Sabine Scholl‐Bürgi
Published 2020-06-01

The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Fo...

by Camille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, Carlo Marcelis, Marius Kraenzlin, Nicole Fleischer, Sheila Unger, Andrea Superti-Furga
Published 2020-04-01

Classical homocystinuria, is it safe to exercise?

by Aurel T. Tankeu, Geraldine Van Winckel, Belinda Campos-Xavier, Olivier Braissant, Rosette Pedro, Andrea Superti-Furga, Francesca Amati, Christel Tran
Published 2021-06-01

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous <i>KDM5B</i> Variants

by Sébastien Lebon, Mathieu Quinodoz, Virginie G. Peter, Carole Gengler, Gaëlle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, Andrea Superti-Furga
Published 2021-09-01

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

by Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez, Sebastien Lebon
Published 2020-01-01

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

by Luisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, Cheryl R Greenberg, Belinda A Campos-Xavier, Andreas Zankl, Catherine Ucla, Stylianos E Antonarakis, Andrea Superti-Furga, Alexandre Reymond
Published 2005-10-01

Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy

by Gabriella Guzzo, Gabriella Guzzo, Gabriella Guzzo, Salima Sadallah, Heidi Fodstad, Jean-Pierre Venetz, Samuel Rotman, Daniel Teta, Thierry Gauthier, Giuseppe Pantaleo, Andrea Superti-Furga, Manuel Pascual
Published 2021-05-01

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

by Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, Julie Deuquet, Alessandra Piersigilli, Sabine Scholl-Bürgi, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, Paolo Bonaldo, F. Gisou van der Goot
Published 2017-06-01

The skeletal effect of post-natal treatment with N-acetylcysteine in a diastrophic dysplasia mouse model

by Chiara Gramegna Tota, Chiara Paganini, Luca Monti, Giulia Quattrini, Antonella Forlino, Morgane Bourmaud, Martine Cohen-Solal, Antonio Maurizi, Mattia Capulli, Anna Teti, Andrea Superti-Furga, Antonio Rossi
Published 2021-04-01

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

by Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran
Published 2019-06-01

The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

by Christel Tran, Licia Turolla, Diana Ballhausen, Sandrine Cornaz Buros, Tony Teav, Hector Gallart-Ayala, Julijana Ivanisevic, Mohamed Faouzi, Dirk J. Lefeber, Ivan Ivanovski, Sara Giangiobbe, Stefano Giuseppe Caraffi, Livia Garavelli, Andrea Superti-Furga
Published 2021-09-01

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>

by Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, Marzia Pollazzon, Sara Giangiobbe, Maurizia Valli, Antonio Rossi, Silvia Sassi, Silvia Faccioli, Maja Di Rocco, Cinzia Magnani, Belinda Campos-Xavier, Sheila Unger, Andrea Superti-Furga, Livia Garavelli
Published 2019-10-01