Inborn Errors of Fructose Metabolism. What Can We Learn from Them?

por Tran, Christel
Publicado 2017

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

por Gariani, Karim, Nascimento, Marina, Superti-Furga, Andrea, Tran, Christel
Publicado 2020

New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy

por Gariani, Karim, Klauser, Antoine, Vargas, Maria Isabel, Lazeyras, François, Tran, Christel
Publicado 2022

Overweight and obesity in adult patients with phenylketonuria: a systematic review

por Tankeu, Aurel T., Pavlidou, Despina Christina, Superti-Furga, Andrea, Gariani, Karim, Tran, Christel
Publicado 2023

Black cartilage: Incidentally discovered articular ochronosis during arthroplasty

por Kumps, Camille, Stanovici, Julien, Chaibi, Emmelie, Campos‐Xavier, Belinda, Pavlidou, Despina Christina, Tran, Christel
Publicado 2021

Spinal cerebrotendinous xanthomatosis: A case report and literature review

por Atallah, Isis, Millán, Diego San, Benoît, Wicki, Campos-Xavier, Belinda, Superti-Furga, Andrea, Tran, Christel
Publicado 2021

Elevated lactate in Mauriac syndrome: still a mystery

por Touilloux, Brice, Lu, Henri, Campos-Xavier, Belinda, Superti-Furga, Andrea, Hauschild, Michael, Bouthors, Thérèse, Tran, Christel
Publicado 2021

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

por Touilloux, Brice, Lu, Henri, Campos-Xavier, Belinda, Superti-Furga, Andrea, Hauschild, Michael, Bouthors, Thérèse, Tran, Christel
Publicado 2021

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

por Good, Jean-Marc, Atallah, Isis, Castro Jimenez, Mayte, Benninger, David, Kuntzer, Thierry, Superti-Furga, Andrea, Tran, Christel
Publicado 2021

Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy

por Van Winckel, Géraldine, Ballhausen, Diana, Wolf, Barry, Procter, Melinda, Mao, Rong, Burda, Patricie, Strambo, Davide, Kuntzer, Thierry, Tran, Christel
Publicado 2020

Classical homocystinuria, is it safe to exercise?

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

Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient

por Gschwind, Markus, Garcia Segarra, Nuria, Schaller, André, Bolognini, Ramona, Nuoffer, Jean‐Marc, Hourez, Raphael, Deprez, Manuel, Lhermitte, Benoit, Maeder, Philippe, Tran, Christel, Kuntzer, Thierry
Publicado 2022

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

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

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

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