Christel Tran

Publications | Phd and Masters theses

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70 publications

2024 | 2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2001 |
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N., Lenz D., Baric I., Crushell E., Vici C.D., Distelmaier F., Feillet F., Freisinger P., Hempel M., Khoreva A.L. et al., 2024/03. Molecular genetics and metabolism, 141 (3) p. 108118. Peer-reviewed.
Biotinidase deficiency: What have we learned in forty years?
Tankeu A.T., Van Winckel G., Elmers J., Jaccard E., Superti-Furga A., Wolf B., Tran C., 2023/04. Molecular genetics and metabolism, 138 (4) p. 107560. Peer-reviewed.
 
Le régime cétogène : efficace contre le cancer ? [Is ketogenic diet effective against cancer ?]
Tankeu A.T., Barigou M., Pedro R., De Micheli R., Bodmer A., Genton L., Collet T.H., Tran C., 2023/03/22. Revue medicale suisse, 19 (819) pp. 576-580. Peer-reviewed.
Overweight and obesity in adult patients with phenylketonuria: a systematic review.
Tankeu A.T., Pavlidou D.C., Superti-Furga A., Gariani K., Tran C., 2023/02/22. Orphanet journal of rare diseases, 18 (1) p. 37. Peer-reviewed.
 
When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.
Pavlidou D.C., Van Winckel G., Tran C., 2022/10. Journal of general internal medicine, 37 (13) pp. 3489-3490. Peer-reviewed.
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.
Gschwind M., Garcia Segarra N., Schaller A., Bolognini R., Nuoffer J.M., Hourez R., Deprez M., Lhermitte B., Maeder P., Tran C. et al., 2022/06. Annals of clinical and translational neurology, 9 (6) pp. 888-892. Peer-reviewed.
 
New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy.
Gariani K., Klauser A., Vargas M.I., Lazeyras F., Tran C., 2022/03/15. Brain sciences, 12 (3) p. 389. Peer-reviewed.
 
Chronische Müdigkeit: Wann liegt der Verdacht auf eine erbliche Stoffwechselerkrankung vor? [Chronic Fatigue: When to Suspect an Inherited Metabolic Disease?]
Tankeu A.T., Tran C., 2022/01. Praxis, 110 (1) pp. 1-6. Peer-reviewed.
 
Fatigue chronique: quand suspecter une maladie héréditaire du métabolisme? [Chronic Fatigue: When to Suspect an Inherited Metabolic Disease?]
Tankeu A.T., Tran C., 2022/01. Praxis, 110 (1) pp. 38-43. Peer-reviewed.
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.
Atallah I., McCormick D., Good J.M., Barigou M., Fraga M., Sempoux C., Superti-Furga A., Semple R.K., Tran C., 2022. Journal of clinical lipidology, 16 (5) pp. 583-590. Peer-reviewed.
 
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
van Wegberg AMJ, Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M.S., Maillot F., van Spronsen F.J., Study Group on Missed PKU and Missed to Follow-Up, 2021/12. The Journal of pediatrics, 239 pp. 231-234.e2. Peer-reviewed.
 
Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.
Kumps C., Stanovici J., Chaibi E., Campos-Xavier B., Pavlidou D.C., Tran C., 2021/11. Journal of inherited metabolic disease, 44 (6) pp. 1503-1504. Peer-reviewed.
Correction to: Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B., Lu H., Campos-Xavier B., Superti-Furga A., Hauschild M., Bouthors T., Tran C., 2021/09/30. BMC endocrine disorders, 21 (1) p. 194. Peer-reviewed.
 
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects.
Tran C., Turolla L., Ballhausen D., Buros S.C., Teav T., Gallart-Ayala H., Ivanisevic J., Faouzi M., Lefeber D.J., Ivanovski I. et al., 2021/09. Molecular genetics and metabolism reports, 28 p. 100777. Peer-reviewed.
 
Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B., Lu H., Campos-Xavier B., Superti-Furga A., Hauschild M., Bouthors T., Tran C., 2021/08/21. BMC endocrine disorders, 21 (1) p. 172. Peer-reviewed.
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Royer-Bertrand B., Cisarova K., Niel Bütschi F., Foletti G., Guinchat V., Tran C., Superti-Furga A., Good J.M., 2021/08. American journal of medical genetics. Part A, 185 (8) pp. 2602-2606. Peer-reviewed.
Classical homocystinuria, is it safe to exercise?
Tankeu A.T., Van Winckel G., Campos-Xavier B., Braissant O., Pedro R., Superti-Furga A., Amati F., Tran C., 2021/06. Molecular genetics and metabolism reports, 27 p. 100746. Peer-reviewed.
 
Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance.
Debray F.G., Seyssel K., Fadeur M., Tappy L., Paquot N., Tran C., 2021/06. Clinical nutrition, 40 (6) pp. 4246-4254. Peer-reviewed.
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
Good J.M., Atallah I., Castro Jimenez M., Benninger D., Kuntzer T., Superti-Furga A., Tran C., 2021/05/06. Genes, 12 (5) p. 695. Peer-reviewed.
 
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V., Sokolová J., Morris AAM, Pavlíková M., Gleich F., Kölker S., Krijt J., Dionisi-Vici C., Baumgartner M.R., Blom H.J. et al., 2021/05. Journal of inherited metabolic disease, 44 (3) pp. 677-692. Peer-reviewed.
 
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I., Millán D.S., Benoît W., Campos-Xavier B., Superti-Furga A., Tran C., 2021/03. Molecular genetics and metabolism reports, 26 p. 100719. Peer-reviewed.
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.
Gariani K., Nascimento M., Superti-Furga A., Tran C., 2020/08/18. Orphanet journal of rare diseases, 15 (1) p. 210. Peer-reviewed.
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
Van Winckel G., Ballhausen D., Wolf B., Procter M., Mao R., Burda P., Strambo D., Kuntzer T., Tran C., 2020. Frontiers in neurology, 11 p. 516799. Peer-reviewed.
 
Education and training in adult metabolic medicine: Results of an international survey.
Sechi A., Fabbro E., Langeveld M., Tullio A., Lachmann R., Mochel F., SSIEM Adult Physicians Metabolic Group, 2019/09. JIMD reports, 49 (1) pp. 63-69. Peer-reviewed.
 
Cellular circadian period length inversely correlates with HbA<sub>1c</sub> levels in individuals with type 2 diabetes.
Sinturel F., Makhlouf A.M., Meyer P., Tran C., Pataky Z., Golay A., Rey G., Howald C., Dermitzakis E.T., Pichard C. et al., 2019/08. Diabetologia, 62 (8) pp. 1453-1462. Peer-reviewed.
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
Royer-Bertrand B., Tsouni P., Mullen P., Campos Xavier B., Mittaz Crettol L., Lobrinus A.J., Ghika J., Baumgartner M.R., Rivolta C., Superti-Furga A. et al., 2019/06. Annals of clinical and translational neurology, 6 (6) pp. 1072-1080. Peer-reviewed.
 
Diabète, cancer et obésité : une relation sans équivoque [Diabetes, cancer and obesity : unequivocal association]
Tran C., 2019/05/29..
The natural history of classic galactosemia: lessons from the GalNet registry.
Rubio-Gozalbo M.E., Haskovic M., Bosch A.M., Burnyte B., Coelho A.I., Cassiman D., Couce M.L., Dawson C., Demirbas D., Derks T. et al., 2019/04/27. Orphanet journal of rare diseases, 14 (1) p. 86. Peer-reviewed.
Odyssée diagnostique lors de douleurs neuropathiques
Job Christophe, Barman-Akszen Jasmin, Kuntzer Thierry, Nagy Monika, Gachoud David, Vollenweider Peter, Minder Elisabeth I., Tran Christel, Jaccard Evrim, 2019/03/27. Forum Médical Suisse ‒ Swiss Medical Forum.
 
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
Voinea C., Gonzalez Rodriguez E., Beigelman-Aubry C., Leroy V., Aubry-Rozier B., Campos-Xavier B., Ballhausen D., Lazor R., Barbey F., Bonafé L. et al., 2019/03. Journal of bone and mineral metabolism, 37 (2) pp. 378-383. Peer-reviewed.
 
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M., Diodato D., Martinelli D., Olivieri G., Blom H., Gleich F., Kölker S., Kožich V., Morris A.A., Seifert B. et al., 2019/03. Journal of inherited metabolic disease, 42 (2) pp. 333-352. Peer-reviewed.
 
L’anémie mégaloblastique thiamine dépendante ou syndrome de Rogers : une revue de la littérature [Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review]
Lu H., Lu H., Vaucher J., Tran C., Vollenweider P., Castioni J., 2019/01. La Revue de medecine interne, 40 (1) pp. 20-27. Peer-reviewed.
 
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Tran C., Bonafé L., Nuoffer J.M., Rieger J., Berger M.M., 2018/08. Clinical nutrition, 37 (4) pp. 1114-1120. Peer-reviewed.
 
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
Debray F.G., Damjanovic K., Rosset R., Mittaz-Crettol L., Roux C., Braissant O., Barbey F., Bonafé L., De Bandt J.P., Tappy L. et al., 2018/08/01. The American journal of clinical nutrition, 108 (2) pp. 292-299. Peer-reviewed.
 
Symptômes musculaires associés aux statines : quelle prise en charge en 2018 ? [Statin-associated muscle symptoms : Current management in 2018]
Kosinski C., Tran C., Kuntzer T., Rodondi N., Collet T.H., 2018/02/28. Revue medicale suisse, 14 (596) pp. 462-469. Peer-reviewed.
 
Inborn Errors of Metabolism in Adults: Clues for Nutritional Management in ICU
Tran Christel, Bonafé Luisa, 2018. pp. 133-147 dans Critical Care Nutrition Therapy for Non-nutritionists, Springer International Publishing.
 
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert S.C., Schmitt R.N., Schlatter S.M., Gemperle-Britschgi C., Balcı M.C., Berg V., Çoker M., Das A.M., Demirkol M., Derks TGJ et al., 2017/09. Molecular genetics and metabolism, 122 (1-2) pp. 67-75. Peer-reviewed.
 
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.
Tran C., Patel J., Stacy H., Mamak E.G., Faghfoury H., Raiman J., Clarke JTR, Blaser S., Mercimek-Mahmutoglu S., 2017/07. European journal of paediatric neurology, 21 (4) pp. 600-609. Peer-reviewed.
Inborn Errors of Fructose Metabolism. What Can We Learn from Them?
Tran C., 2017/04/03. Nutrients, 9 (4) p. 0. Peer-reviewed.
 
L’interniste face aux maladies rares: quand y penser? L’exemple des maladies mitochondriales [Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]
Tran C., Serratrice J., Nuoffer J.M., Schaller A., Favrat B., Barbey F., Lobrinus J.A., Kern I., Kuntzer T., Ballhausen D., 2017/01/18. Revue medicale suisse, 13 (546) pp. 159-163. Peer-reviewed.
Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy.
Monney P., Qanadli S.D., Hajdu S., Tran C., Schwitter J., Dormond O., Barbey F., 2017. Swiss medical weekly, 147 pp. w14517. Peer-reviewed.
 
Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.
Tran C., Barbey F., Lazor R., Bonafé L., 2017. Respiration; international review of thoracic diseases, 94 (1) pp. 2-13. Peer-reviewed.
 
Systemic availability of guanidinoacetate affects GABAA receptor function and seizure threshold in GAMT deficient mice.
Schulze A., Tran C., Levandovskiy V., Patel V., Cortez M.A., 2016/08. Amino acids, 48 (8) pp. 2041-2047. Peer-reviewed.
 
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
Jackson C.B., Bauer M.F., Schaller A., Kotzaeridou U., Ferrarini A., Hahn D., Chehade H., Barbey F., Tran C., Gallati S. et al., 2016/04. European journal of pediatrics, 175 (4) pp. 517-525. Peer-reviewed.
 
DIABÈTE INAUGURAL [Inaugural diabetes]
Abetel G., Tran C., Zanchi A., 2015/12/09. Revue medicale suisse, 11 (498) pp. 2346-2348. Peer-reviewed.
Acute painful diabetic neuropathy: an uncommon, remittent type of acute distal small fibre neuropathy.
Tran C., Philippe J., Ochsner F., Kuntzer T., Truffert A., 2015. Swiss Medical Weekly, 145 pp. w14131. Peer-reviewed.
 
Edulcorants artificiels et diabète: faux amis [Artificial sweeteners and diabetes: friends or foes?].
Tran C., Jornayvaz F.R., 2015. Revue Médicale Suisse, 11 (477) pp. 1246-1249.
 
Erreurs innées du métabolisme: transition enfant-adulte [Inborn errors of metabolism: transition from childhood to adulthood].
Tran C., Barbey F., Pitteloud N., Philippe J., Kern I., Bonafé L., 2015. Revue Médicale Suisse, 11 (462) pp. 445-449. Peer-reviewed.
 
Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.
Tran C., Konstantopoulou V., Mecjia M., Perlman K., Mercimek-Mahmutoglu S., Kronick J.B., 2015. Journal of Pediatric Endocrinology and Metabolism : Jpem, 28 (7-8) pp. 873-876. Peer-reviewed.
 
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.
Klinke G., Rohrbach M., Giugliani R., Burda P., Baumgartner M.R., Tran C., Gautschi M., Mathis D., Hersberger M., 2015. Clinical Biochemistry, 48 (9) pp. 596-602. Peer-reviewed.
 
Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency.
Tran C., Yazdanpanah M., Kyriakopoulou L., Levandovskiy V., Zahid H., Naufer A., Isbrandt D., Schulze A., 2014/09/25. Clinica chimica acta; international journal of clinical chemistry, 436 pp. 160-168. Peer-reviewed.
 
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.
Tran C., Hewson S., Steinberg S.J., Mercimek-Mahmutoglu S., 2014/08. Pediatric neurology, 51 (2) pp. 262-265. Peer-reviewed.
 
Metabolism of Nutritive Sweeteners in Humans
Tappy L., Egli L., Tran C., 2014. pp. 35-60 dans Fructose, High Fructose Corn Syrup, Sucrose and Health. Nutrition and Health, Humana Press.
 
Hypothermia is a frequent sign of severe hypoglycaemia in patients with diabetes.
Tran C., Gariani K., Herrmann F.R., Juan L., Philippe J., Rutschmann O.T., Vischer U.M., 2012/10. Diabetes & metabolism, 38 (4) pp. 370-372. Peer-reviewed.
 
Sucrose, glucose, fructose: quels sont les effets des sucres sur la santé métabolique? [Sucrose, glucose, fructose consumption: what are the impacts on metabolic health?]
Tran C., Tappy L., 2012/03/07. Revue medicale suisse, 8 (331) pp. 513,515-518. Peer-reviewed.
 
Hypoglycémie sévère chez le patient diabétique de type 2 âgé: quelle prévention? [How to prevent severe hypoglycemia in older patients with type 2 diabetes]
Köhler Ballan B., Tran C., Perrenoud L., Vischer U.M., 2011/11/09. Revue medicale suisse, 7 (316) pp. 2166-2169. Peer-reviewed.
 
Hémoglobine glyquée: nouvel outil de dépistage? [Glycated hemoglobin: a new screening tool?]
Gariani K., Tran C., Philippe J., 2011/06/08. Revue medicale suisse, 7 (298) pp. 1238,1240-1242. Peer-reviewed.
 
Prise en charge du diabète gestationnel: nouvelles connaissances et perspectives futures [Management of gestational diabetes: current knowledge and future perspectives]
Tran C., Boulvain M., Philippe J., 2011/06/08. Revue medicale suisse, 7 (298) pp. 1250-1252, 1254. Peer-reviewed.
 
Contributions of fat and protein to the incretin effect of a mixed meal.
Carrel G., Egli L., Tran C., Schneiter P., Giusti V., D'Alessio D., Tappy L., 2011. American Journal of Clinical Nutrition, 94 (4) pp. 997-1003.
 
Diabète et cancer: une association pernicieuse [Diabetes and cancer: an injurious association]
Gariani K., Tran C., Philippe J., 2010/06/09. Revue medicale suisse, 6 (252) pp. 1193-1194,1196-1198. Peer-reviewed.
 
Insuline et cancer: mythe ou réalité? [Insulin and cancer: myth or reality?]
Tran C., Gariani K., Philippe J., 2010/06/09. Revue medicale suisse, 6 (252) pp. 1188-1190, 1192. Peer-reviewed.
 
Fructose and metabolic diseases: new findings, new questions.
Tappy Luc, Lê Kim A., Tran Christel, Paquot Nicolas, 2010. Nutrition, 26 (11-12) pp. 1044-1049.
Sex differences in lipid and glucose kinetics after ingestion of an acute oral fructose load.
Tran C., Jacot-Descombes D., Lecoultre V., Fielding B.A., Carrel G., Lê K.A., Schneiter P., Bortolotti M., Frayn K.N., Tappy L., 2010. British Journal of Nutrition, 104 (8) pp. 1139-1147.
Training in hypoxia fails to further enhance endurance performance and lactate clearance in well-trained men and impairs glucose metabolism during prolonged exercise.
Lecoultre V., Boss A., Tappy L., Borrani F., Tran C., Schneiter P., Schutz Y., 2010. Experimental Physiology, 95 (2) pp. 315-330. Peer-reviewed.
 
Fructose overconsumption causes dyslipidemia and ectopic lipid deposition in healthy subjects with and without a family history of type 2 diabetes.
Lê K.A., Ith M., Kreis R., Faeh D., Bortolotti M., Tran C., Boesch C., Tappy L., 2009. American Journal of Clinical Nutrition, 89 (6) pp. 1760-1765.
 
Escarres et dénutrition: dépistage et évaluation de l'état nutritionnel [Pressure ulcers and undernutrition: screening and assessment of nutritional status]
Tran C., Roulet M., Guex E., Coti Bertrand P., 2008. Praxis, 97 (5) pp. 261-264.
Markedly blunted metabolic effects of fructose in healthy young female subjects compared with male subjects.
Couchepin C., Lê K.A., Bortolotti M., da Encarnaçao J.A., Oboni J.B., Tran C., Schneiter P., Tappy L., 2008. Diabetes Care, 31 (6) pp. 1254-1256.
 
Candida dubliniensis in recurrent polymicrobial tricuspid endocarditis
Tran C., Cometta A., Letovanec I., Jaton K., Wenger A., Ruchat P., Jaussi A., 2007/08. Echocardiography, 24 (7) pp. 756-9.
 
Neuromyelitis optica following CMV primo-infection.
Tran C., Du Pasquier R.A., Cavassini M., Guex-Crosier Y., Meuli R., Ciuffreda D., Waeber G., 2007. Journal of Internal Medicine, 261 (5) pp. 500-503. Peer-reviewed.
Screening for foetal malformations: performance of routine ultrasonography in the population of the Swiss Canton of Vaud.
Vial Y., Tran C., Addor M.C., Hohlfeld P., 2001. Swiss Medical Weekly, 131 (33-34) pp. 490-494. Peer-reviewed.
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