Resultados da pesquisa - François Feillet

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  1. 1
    Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study

    Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study Por Nathalie Guffon, Bénédicte Héron, B. Chabrol, François Feillet, V. Montauban, Vassili Valayannopoulos

    Publicado em 2015
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  2. 2
    Mapping the functional landscape of frequent<i>phenylalanine hydroxylase</i>(<i>PAH</i>) genotypes promotes personalised medicine in phenylketonuria

    Mapping the functional landscape of frequent<i>phenylalanine hydroxylase</i>(<i>PAH</i>) genotypes promotes personalised medicine in phenylketonuria Por Marta K. Danecka, Mathias Woidy, Johannes Zschocke, François Feillet, Ania C. Muntau, Søren W. Gersting

    Publicado em 2015
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  3. 3
    Neurological aspects of hyperinsulinism–hyperammonaemia syndrome

    Neurological aspects of hyperinsulinism–hyperammonaemia syndrome Por Nadia Bahi‐Buisson, Emmanuel Roze, Carlo Dionisi‐Vici, Fabienne Escande, Vassili Valayannopoulos, François Feillet, Claudine Heinrichs

    Publicado em 2008
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  4. 4
    High prevalence of hyperhomocysteinemia related to folate deficiency and the 677C→T mutation of the gene encoding methylenetetrahydrofolate reductase in coastal West Africa

    High prevalence of hyperhomocysteinemia related to folate deficiency and the 677C→T mutation of the gene encoding methylenetetrahydrofolate reductase in coastal West Africa Por Emile Amouzou, Nicodème Chabi, Charles Adjalla, Rosa María Rodríguez-Guéant, François Feillet, C. Villaume, Ambaliou Sanni, Jean‐Louis Guéant

    Publicado em 2004
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  5. 5
    Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

    Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency Por Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chéry, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

    Publicado em 2007
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  6. 6
    Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets

    Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets Por Anita MacDonald, M. van Rijn, François Feillet, Allan M. Lund, Laurie Bernstein, Annet M. Bosch, Maria Giżewska, F. J. van Spronsen

    Publicado em 2012
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  7. 7
    Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

    Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results Por Maria Giżewska, Anita MacDonald, Amaya Bélanger‐Quintana, Alberto Burlina, Maureen Cleary, Turgay Coşkun, François Feillet, Ania C. Muntau, Friedrich K. Trefz, Francjan J. van Spronsen, Nenad Blau

    Publicado em 2015
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  8. 8
    Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis

    Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis Por Catarina Rodrigues, Alex Pinto, Ana Faria, Diana Teixeira, Annemiek M. J. van Wegberg, Kirsten Ahring, François Feillet, Conceição Calhau, Anita MacDonald, André Moreira-Rosário, Júlio César Rocha

    Publicado em 2021
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  9. 9
    Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes

    Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes Por Maureen Cleary, Friedrich K. Trefz, Ania C. Muntau, François Feillet, Francjan J. van Spronsen, Alberto Burlina, Amaya Bélanger‐Quintana, Maria Giżewska, Christoph Gasteyger, Esther Bettiol, Nenad Blau, Anita MacDonald

    Publicado em 2013
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  10. 10
    Efficacy and safety of hydrolyzed rice-protein formulas for the treatment of cow's milk protein allergy

    Efficacy and safety of hydrolyzed rice-protein formulas for the treatment of cow's milk protein allergy Por A. Bocquet, Christophe Dupont, J.-P. Chouraqui, Dominique Darmaun, François Feillet, M.-L. Frelut, J.-P. Girardet, R. Hankard, Alexandre Lapillonne, Jean‐Christophe Rozé, Umberto Siméoni, Dominique Turck, A. Briend

    Publicado em 2019
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  11. 11
    Nutritional risks of ARFID (avoidant restrictive food intake disorders) and related behavior

    Nutritional risks of ARFID (avoidant restrictive food intake disorders) and related behavior Por François Feillet, A. Bocquet, A. Briend, J.-P. Chouraqui, Dominique Darmaun, M.-L. Frelut, J.-P. Girardet, D. Guimber, R. Hankard, Alexandre Lapillonne, Noël Peretti, Jean‐Christophe Rozé, Umberto Siméoni, Dominique Turck, Christophe Dupont

    Publicado em 2019
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  12. 12
    Religious dietary rules and their potential nutritional and health consequences

    Religious dietary rules and their potential nutritional and health consequences Por J.-P. Chouraqui, Dominique Turck, André Briend, Dominique Darmaun, A. Bocquet, François Feillet, Marie‐Laure Frelut, Jean‐Philippe Girardet, D. Guimber, R. Hankard, Alexandre Lapillonne, Noël Peretti, Jean‐Christophe Rozé, Umberto Siméoni, Christophe Dupont

    Publicado em 2020
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  13. 13
    Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

    Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? Por Arnaud Molin, Arnaud Wiedemann, Nick Demers, Martin Kaufmann, Jérémy Do Cao, Laurent Mainard, B. Dousset, P. Journeau, Geneviève Abéguilé, Nadia Coudray, Hervé Mittre, Nicolas Richard, G. Weryha, Arthur Sorlin, Glenville Jones, Marie‐Laure Kottler, François Feillet

    Publicado em 2017
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  14. 14
    Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1</i></scp> gene: A new case to update the <scp>Okur–Chung</scp> neurodevelopmental syndrome

    Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1</i></scp> gene: A new case to update the <scp>Okur–Chung</scp> neurodevelopmental syndrome Por A Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Müller, J. Colné, François Feillet, Emmanuelle Schmitt, Matheus Augusto Araújo Castro, Jullian Savatt, Adriano Burcheri, Christophe Némos, Christophe Philippe, Laëtitia Lambert

    Publicado em 2024
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  15. 15
    Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients

    Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients Por Cyril Gitiaux, Emmanuel Roze, Kiyoka Kinugawa, Constance Flamand‐Rouvière, Nathalie Boddaert, Emmanuelle Apartis, Vassili Valayannopoulos, Guy Touati, Jacques Motté, David Devos, Karine Mention, Dries Dobbelaere, Diana Rodriguez, Agathe Roubertie, B. Chabrol, François Feillet, Marie Vidailhet, Nadia Bahi‐Buisson

    Publicado em 2008
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  16. 16
    Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

    Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib Por Stéphanie Maupetit‐Mehouas, Virginie Mariot, Christelle Reynès, Guylène Bertrand, François Feillet, Jean‐Claude Carel, D. Simon, H. Bihan, Vincent Gajdos, Eglantine Ferrand Devouge, S. Shenoy, P. Agbo-Kpati, Anne Ronan, Catherine Naud-Saudreau, Anne Lienhardt, Caroline Silve, Agnès Linglart

    Publicado em 2010
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  17. 17
    International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

    International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria Por Ania C. Muntau, Darius J. Adams, Amaya Bélanger-Quintana, Т.V. Bushueva, R. Cerone, Yin‐Hsiu Chien, Ana Chiesa, Turgay Coşkun, Javier de las Heras, François Feillet, Rachel Katz, Florian B. Lagler, Flávia Piazzon, Fran Rohr, Francjan J. van Spronsen, Paula Vargas, Gisela Wilcox, Kaustuv Bhattacharya

    Publicado em 2019
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  18. 18
    PKU dietary handbook to accompany PKU guidelines

    PKU dietary handbook to accompany PKU guidelines Por Anita MacDonald, Annemiek M. J. van Wegberg, Kirsten Ahring, Skadi Beblo, Amaya Bélanger-Quintana, Alberto Burlina, Josep M. Campistol, Turgay Coşkun, François Feillet, Maria Giżewska, Stephan C. J. Huijbregts, Vincenzo Leuzzi, F. Maillot, Ania C. Muntau, Júlio César Rocha, Cristina Romani, Friedrich K. Trefz, Francjan J. van Spronsen

    Publicado em 2020
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  19. 19
    Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

    Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) Por Philippa B. Mills, Emma Footitt, Kevin Mills, Karin Tuschl, Sarah Aylett, Sophia Varadkar, Cheryl Hemingway, Neil Marlow, Janet M. Rennie, Peter Baxter, Olivier Dulac, Rima Nabbout, William J. Craigen, Bernhard Schmitt, François Feillet, Ernst Christensen, Pascale de Lonlay, Mike Pike, M.I. Hughes, Eduard A. Struys, Cornelis Jakobs, Sameer M. Zuberi, Peter T. Clayton

    Publicado em 2010
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  20. 20
    Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France

    Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France Por René Wintjens, Dominique Bozon, Khaldia Belabbas, Félicien MBou, Jean‐Philippe Girardet, Patrick Tounian, Mathilde Jolly, Franck Boccara, Ariel Cohen, Alexandra Karsenty, B. Dubern, Jean‐Claude Carel, Ahlam Azar-Kolakez, François Feillet, F. Labarthe, Anne-Marie Colin Gorsky, Alice Horovitz, Catherine Tamarindi, P. Kieffer, Anne Lienhardt, Olivier Lascols, Mathilde Di Filippo, Fabienne Dufernez

    Publicado em 2016
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