Francois Feillet: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chery, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

Journal:

Year:

2008

Language:

english

File:

PDF, 309 KB

english, 2008

2

Management of adult patients with phenylketonuria: survey results from 24 countries

Trefz, Friedrich K., van Spronsen, Francjan J., MacDonald, Anita, Feillet, François, Muntau, Ania C., Belanger-Quintana, Amaya, Burlina, Alberto, Demirkol, Mübeccel, Giovannini, Marcello, Gasteyger, C

Journal:

European Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 347 KB

english, 2015

3

Phénylcétonurie

François Feillet

Journal:

La Presse Médicale

Year:

2006

File:

PDF, 377 KB

2006

4

Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway

Renard, Emeline, Chéry, Céline, Oussalah, Abderrahim, Josse, Thomas, Perrin, Pascal, Tramoy, Denise, Voirin, Jimmy, Klein, Olivier, Leheup, Bruno, Feillet, François, Guéant-Rodriguez, Rosa-Maria, Guéa

Journal:

Year:

2019

Language:

english

File:

PDF, 1.42 MB

english, 2019

5

Psychiatric adult-onset of urea cycle disorders: A case-series

Bigot, Adrien, Brunault, Paul, Lavigne, Christian, Feillet, François, Odent, Sylvie, Kaphan, Elsa, Thauvin, Christel, Leguy, Vanessa, Broué, Pierre, Tchan, Michel C., Maillot, François

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 265 KB

english, 2017

6

Clinical and molecular characterization of adult patients with lateâonset MTHFR deficiency

Marelli, Cecilia, Lavigne, Christian, Stepien, Karolina M, Janssen, Mirian CH, Feillet, Francois, KoÅ¾ich, Viktor, Jesina, Pavel, Schule, Rebecca, Kessler, Cristoph, RedonnetâVernhet, Isabelle, Regn

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 331 KB

2020

7

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

Bénédicte Héron, Yann Mikaeloff, Roseline Froissart, Guillaume Caridade, Irène Maire, Catherine Caillaud, Thierry Levade, Brigitte Chabrol, François Feillet, Hélène Ogier, Vassili Valayannopoulos, Hel

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 142 KB

english, 2011

8

P87 Pneumologie - Cardiologie Syndrome des moules bronchiques: A propos de quatre cas pediatriques

Olivier David, Jocelyne Derelle, Anne Borsa, Hugues Lucron, François Feillet, Pierre Monin

Journal:

Archives de Pédiatrie

Year:

2003

File:

PDF, 138 KB

2003

9

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

Guffon, Nathalie, Heron, Bénédicte, Chabrol, Brigitte, Feillet, François, Montauban, Vincent, Valayannopoulos, Vassili

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 693 KB

english, 2015

10

Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0–4 years of age

Muntau, Ania C., du Moulin, Marcel, Feillet, Francois

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.23 MB

english, 2018

11

Les FAHFAs, une nouvelle classe de lipides endogènes bioactifs

Benlebna, Melha, Balas, Laurence, Casas, François, Gaillet, Sylvie, Coudray, Charles, Durand, Thierry, Feillet-Coudray, Christine

Journal:

Cahiers de Nutrition et de Diététique

Year:

2018

Language:

french

File:

PDF, 740 KB

french, 2018

12

Prognostic Value of Early Therapeutic Alliance in Weight Recovery: A Prospective Cohort of 108 Adolescents With Anorexia Nervosa

Bourion-Bedes, Stephanie, Baumann, Cedric, Kermarrec, Solenn, Ligier, Fabienne, Feillet, François, Bonnemains, Chrystele, Guillemin, Francis, Kabuth, Bernard

Journal:

Journal of Adolescent Health

Year:

2013

Language:

english

File:

PDF, 477 KB

english, 2013

13

Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia

François Feillet, Céline Chery, Fares Namour, Antoine Kimmoun, Elisabeth Favre, Elisabeth Lorentz, Shyue-Fang Battaglia-Hsu, Jean-Louis Guéant

Journal:

Early Human Development

Year:

2008

Language:

english

File:

PDF, 246 KB

english, 2008

14

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

Husson, Marie-Caroline, Schiff, Manuel, Fouilhoux, Alain, Cano, Aline, Dobbelaere, Dries, Brassier, Anais, Mention, Karine, Arnoux, Jean-Baptiste, Feillet, François, Chabrol, Brigitte, Guffon, Nathali

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 402 KB

english, 2016

15

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

Jeannesson-Thivisol, Elise, Feillet, François, Chéry, Céline, Perrin, Pascal, Battaglia-Hsu, Shyue-Fang, Herbeth, Bernard, Cano, Aline, Barth, Magalie, Fouilhoux, Alain, Mention, Karine, Labarthe, Fra

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 494 KB

english, 2015

16

Outcomes beyond phenylalanine: An international perspective

Francois Feillet, Anita MacDonald, Danielle Hartung (Perron), Barbara Burton

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 182 KB

english, 2010

17

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

Harvey L Levy, Andrzej Milanowski, Anupam Chakrapani, Maureen Cleary, Philip Lee, Friedrich K Trefz, Chester B Whitley, François Feillet, Annette S Feigenbaum, Judith D Bebchuk, Heidi Christ-Schmidt,

Journal:

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

18

P124 Pédiatrie générale Prevention de la mort subite du nourrisson (MSN): C'est encore insuffisant

Anne Borsa-Dorion, Sylvie Cavaré, François Feillet, Pierre Monin

Journal:

Archives de Pédiatrie

Year:

2003

File:

PDF, 173 KB

2003

19

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

Amouzou, Emile K, Chabi, Nicodème W, Adjalla, Charles E, Rodriguez-Guéant, Rosa M, Feillet, François, Villaume, Christian, Sanni, Ambaliou, Guéant, Jean-Louis

Journal:

American Journal of Clinical Nutrition

Year:

2004

Language:

english

File:

PDF, 53 KB

english, 2004

20

Respiratory oscillation mechanics in ventilated infants with bronchiolitis

François Marchal, Rémi Gauthier, François Feillet

Journal:

Pediatric Pulmonology

Year:

1998

Language:

english

File:

PDF, 35 KB

english, 1998

21

Maternal phenylketonuria: the French survey

François Feillet, Véronique Abadie, Jacques Berthelot, Nicole Maurin, Hélène Ogier, Michel Vidailhet, Jean-Pierre Farriaux, Loic de Parscau

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 243 KB

english, 2004

22

Neonatal screening and long-term follow-up of phenylketonuria: the French database

Véronique Abadie, Jacques Berthelot, François Feillet, Nicole Maurin, Annie Mercier, Hélène Ogier de Baulny, Loı̈c de Parscau

Journal:

Early Human Development

Year:

2001

Language:

english

File:

PDF, 140 KB

english, 2001

23

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chery, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

Journal:

Year:

2008

Language:

english

File:

PDF, 74 KB

english, 2008

24

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients

Lebigot, Elise, Brassier, Anaïs, Zater, Mokhtar, Imanci, Dilek, Feillet, François, Thérond, Patrice, de Lonlay, Pascale, Boutron, Audrey

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 554 KB

english, 2015

25

Neurological manifestations in adults with phenylketonuria: new cases and review of the literature

Jaulent, Paul, Charriere, Sybil, Feillet, François, Douillard, Claire, Fouilhoux, Alain, Thobois, Stéphane

Journal:

Journal of Neurology

Year:

2019

File:

PDF, 922 KB

2019

26

Hypothalamic dysfunction associated with neuroblastoma: Evidence for a new Paraneoplastic syndrome?

Nicolas Sirvent, Etienne Bérard, Pascal Chastagner, François Feillet, Karin Wagner, Danièle Sommelet

Journal:

Pediatric Blood & Cancer

Year:

2003

Language:

english

File:

PDF, 54 KB

english, 2003

27

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy

Damien Galanaud, Ayman Tourbah, Stéphane Lehéricy, Nathalie Leveque, Bénédicte Heron, Thierry Billette de Villemeur, Nathalie Guffon, François Feillet, Nicole Baumann, Marie T. Vanier, Frédéric Sedel

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 272 KB

english, 2009

28

Impact of high dietary lipid intake and related metabolic disorders on the abundance and acyl composition of the unique mitochondrial phospholipid, cardiolipin

Feillet-Coudray, Christine, Fouret, Gilles, Casas, François, Coudray, Charles

Journal:

Journal of Bioenergetics and Biomembranes

Year:

2014

Language:

english

File:

PDF, 613 KB

english, 2014

29

Vitamin B-12 and liver activity and expression of methionine synthase are decreased in fetuses with neural tube defects

Fofou-Caillierez, Ma'atem B, Guéant-Rodriguez, Rosa-Maria, Alberto, Jean-Marc, Chéry, Céline, Josse, Thomas, Gérard, Philippe, Forges, Thierry, Foliguet, Bernard, Feillet, François, Guéant, Jean-Louis

Journal:

American Journal of Clinical Nutrition

Year:

2019

Language:

english

File:

PDF, 1.70 MB

english, 2019

30

Deciphering exome sequencing data: bringing mitochondrial DNA variants to light

Garret, Philippine, Bris, Celine, Procaccio, Vincent, Bonneau, Patrizia Amati, Vabres, Pierre, Houcinat, Nada, Tisserant, Emilie, Feillet, François, Bruel, Ange‐Line, Quéré, Virginie, Philippe, Christ

Journal:

Year:

2019

Language:

english

File:

PDF, 588 KB

english, 2019

31

Orphan drugs and orphan diseases

Jaime Campos-Castelló, Gerard Ponsot, François Feillet, M Vidailhet, Irène Maire

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 137 KB

english, 2000

32

International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria

Muntau, Ania C., Adams, Darius J., Bélanger-Quintana, Amaya, Bushueva, Tatiana V., Cerone, Roberto, Chien, Yin-Hsiu, Chiesa, Ana, Coşkun, Turgay, de las Heras, Javier, Feillet, François, Katz, Rachel,

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 735 KB

english, 2019

33

Optimizing the use of sapropterin (BH4) in the management of phenylketonuria

Nenad Blau, Amaya Bélanger-Quintana, Mübeccel Demirkol, François Feillet, Marcello Giovannini, Anita MacDonald, Friedrich K. Trefz, Francjan J. van Spronsen

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 343 KB

english, 2009

34

Skeletal muscle overexpression of short isoform Sirt3 altered mitochondrial cardiolipin content and fatty acid composition

Chabi, Béatrice, Fouret, Gilles, Lecomte, Jérome, Cortade, Fabienne, Pessemesse, Laurence, Baati, Narjès, Coudray, Charles, Lin, Ligen, Tong, Qiang, Wrutniak-Cabello, Chantal, Casas, François, Feillet

Journal:

Journal of Bioenergetics and Biomembranes

Year:

2018

Language:

english

File:

PDF, 668 KB

english, 2018

35

Chicoric Acid Is an Antioxidant Molecule That Stimulates AMP Kinase Pathway in L6 Myotubes and Extends Lifespan in Caenorhabditis elegans

Schlernitzauer, Audrey, Oiry, Catherine, Hamad, Raphael, Galas, Simon, Cortade, Fabienne, Chabi, Béatrice, Casas, François, Pessemesse, Laurence, Fouret, Gilles, Feillet-Coudray, Christine, Cros, Géra

Journal:

Year:

2013

Language:

english

File:

PDF, 1.08 MB

english, 2013

36

Mineral and vitamin intake of infants and young children: the Nutri-Bébé 2013 survey

Chouraqui, Jean-Pierre, Tavoularis, Gabriel, Turck, Dominique, Ferry, Constance, Feillet, François

Journal:

European Journal of Nutrition

Year:

2019

File:

PDF, 901 KB

2019

37

Hereditary fructose intolerance: Frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France—Identification of eight new mutations

Anne Davit-Spraul, Catherine Costa, Mokhtar Zater, Dalila Habes, Jacques Berthelot, Pierre Broué, François Feillet, Olivier Bernard, Philippe Labrune, Christiane Baussan

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 621 KB

english, 2008

38

Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives

Daelman, Laure, Ewenzcyk, Claire, Feillet, François, Amoura, Zaïre, Tourbah, Ayman, Sedel, Frédéric

Journal:

Revue Neurologique

Year:

2012

Language:

french

File:

PDF, 75 KB

french, 2012

39

Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases

Feillet, François, Muntau, Ania C., Debray, François-Guillaume, Lotz-Havla, Amelie S., Puchwein-Schwepcke, Alexandra, Fofou-Caillierez, Ma’atem Béatrice, van Spronsen, Francjan, Trefz, Fritz Friedrich

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 590 KB

english, 2014

40

Acute decompensation of isovaleric acidemia induced by Graves’ disease

Antoine Kimmoun, Georges Abboud, Jean Strazeck, Marc Merten, Jean-Louis Guéant, François Feillet

Journal:

Intensive Care Medicine

Year:

2008

Language:

english

File:

PDF, 168 KB

english, 2008

41

Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency: Reply

François Feillet, Jean-Louis Guéant

Journal:

Journal of Hepatology

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

42

Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Thevenon, Julien, Milh, Mathieu, Feillet, François, St-Onge, Judith, Duffourd, Yannis, Jugé, Clara, Roubertie, Agathe, Héron, Delphine, Mignot, Cyril, Raffo, Emmanuel, Isidor, Bertrand, Wahlen, Sandra

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.13 MB

english, 2014

43

Key European guidelines for the diagnosis and management of patients with phenylketonuria

van Spronsen, Francjan J, van Wegberg, Annemiek MJ, Ahring, Kirsten, Bélanger-Quintana, Amaya, Blau, Nenad, Bosch, Annet M, Burlina, Alberto, Campistol, Jaime, Feillet, Francois, Giżewska, Maria, Huij

Journal:

The Lancet Diabetes & Endocrinology

Year:

2017

Language:

english

File:

PDF, 469 KB

english, 2017

44

Acute metabolic encephalopathy in two patients treated with asparaginase and ondasetron

Helene Sudour, Claudine Schmitt, Audrey Contet, Pascal Chastagner, François Feillet

Journal:

American Journal of Hematology

Year:

2011

Language:

english

File:

PDF, 165 KB

english, 2011

45

Ovarian tissue cryopreservation and subsequent spontaneous pregnancies in a patient with classic galactosemia

Thierry Forges, Patricia Monnier, Bruno Leheup, David Cheillan, Michèle Brivet, Aurelio Barbarino, Jean-Louis Guéant, François Feillet

Journal:

Fertility and Sterility

Year:

2011

Language:

english

File:

PDF, 79 KB

english, 2011

46

Effects of long-term administration of saturated and n-3 fatty acid-rich diets on lipid utilisation and oxidative stress in rat liver and muscle tissues

Feillet-Coudray, Christine, Aoun, Manar, Fouret, Gilles, Bonafos, Béatrice, Ramos, Jeanne, Casas, François, Cristol, Jean Paul, Coudray, Charles

Journal:

British Journal Of Nutrition

Year:

2013

Language:

english

File:

PDF, 412 KB

english, 2013

47

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

Giżewska, Maria, MacDonald, Anita, Bélanger-Quintana, Amaya, Burlina, Alberto, Cleary, Maureen, Coşkun, Turgay, Feillet, François, Muntau, Ania C., Trefz, Friedrich K., van Spronsen, Francjan J., Blau

Journal:

European Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 532 KB

english, 2016

48

Skeletal muscle expression of p43, a truncated thyroid hormone receptor α, affects lipid composition and metabolism

Casas, François, Fouret, Gilles, Lecomte, Jérome, Cortade, Fabienne, Pessemesse, Laurence, Blanchet, Emilie, Wrutniak-Cabello, Chantal, Coudray, Charles, Feillet-Coudray, Christine

Journal:

Journal of Bioenergetics and Biomembranes

Year:

2018

Language:

english

File:

PDF, 446 KB

english, 2018

49

Les cardiolipides, des phospholipides clés pour la fonction mitochondriale. Relation avec les apports lipidiques et la physiopathologie

Feillet-Coudray, Christine, Fouret, Gilles, Casas, François, Coudray, Charles

Journal:

Cahiers de Nutrition et de Diététique

Year:

2015

File:

PDF, 1.10 MB

2015

50

Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: Characterization of two novel mutations in compound heterozygous patients

Thierry Forges, Céline Chery, Sandra Audonnet, François Feillet, Jean-Louis Gueant

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 556 KB

english, 2010

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски