A GPHN point mutation leading to molybdenum cofactor deficiency
Reiss, J, Lenz, U, Aquaviva-Bourdain, C, Joriot-Chekaf, S, Mention-Mulliez, K, Holder-Espinasse, M
Published in Clinical genetics (01.12.2011)
Published in Clinical genetics (01.12.2011)
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Journal Article
Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture
Touati, G., Valayannopoulos, V., Mention, K., Lonlay, P., Jouvet, P., Depondt, E., Assoun, M., Souberbielle, J. C., Rabier, D., Ogier de Baulny, H., Saudubray, J.‐M.
Published in Journal of inherited metabolic disease (01.04.2006)
Published in Journal of inherited metabolic disease (01.04.2006)
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Journal Article
Acute Hydrocephalus Revealing Infantile Onset of Pompe Disease
Dobbelaere, D, Jissendi, P, Cuisset, J.M, Mention, K, Soto Ares, G
Published in Clinical therapeutics (01.06.2011)
Published in Clinical therapeutics (01.06.2011)
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Journal Article
Organization of collaborative deliberation for limiting or withholding treatments in children
Cremer, R, Lervat, C, Laffargue, A, Le Cunff, J, Joriot, S, Minnaert, C, Cuisset, J-M, Mention, K, Thomas, D, Guimber, D, Matthews, A, Fayoux, P, Storme, L, Vandoolaeghe, S
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.11.2015)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.11.2015)
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Journal Article
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency
Valayannopoulos, V., Boddaert, N., Mention, K., Touati, G., Barbier, V., Chabli, A., Sedel, F., Kaplan, J., Dufier, J.L., Seidenwurm, David, Rabier, D., Saudubray, J.M., de Lonlay, P.
Published in Molecular genetics and metabolism (01.06.2009)
Published in Molecular genetics and metabolism (01.06.2009)
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Journal Article
Development of liver disease despite mannose treatment in two patients with CDG-Ib
Mention, K., Lacaille, F., Valayannopoulos, V., Romano, S., Kuster, A., Cretz, M., Zaidan, H., Galmiche, L., Jaubert, F., Keyzer, Y. de, Seta, N., Lonlay, P. de
Published in Molecular genetics and metabolism (2008)
Published in Molecular genetics and metabolism (2008)
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Journal Article
Persistence of gastrocutaneous fistula after removal of gastrostomy tubes in children: prevalence and associated factors
El-Rifai, N, Michaud, L, Mention, K, Guimber, D, Caldari, D, Turck, D, Gottrand, F
Published in Endoscopy (01.08.2004)
Published in Endoscopy (01.08.2004)
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Journal Article
Renal function outcome in pediatric liver transplant recipients
Mention, K., Lahoche-Manucci, A., Bonnevalle, M., Pruvot, F. R., Declerck, N., Foulard, M., Gottrand, F.
Published in Pediatric transplantation (01.04.2005)
Published in Pediatric transplantation (01.04.2005)
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Journal Article
The consulting physician for withdrawal of life-sustaining treatments in children
Cremer, R, Fayoux, P, Guimber, D, Joriot, S, Laffargue, A, Lervat, C, Matthews, A, Mention, K, Sfeir, R, Storme, L, Thomas, D, Thumerelle, C, Vandoolaeghe, S
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.08.2012)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.08.2012)
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Journal Article
D-lactic acidosis in a child with short bowel syndrome
Dahhak, S, Uhlen, S, Mention, K, Romond, M-B, Fontaine, M, Gottrand, F, Turck, D, Michaud, L
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2008)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2008)
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Journal Article
Tolerance and efficacy of intravenous iron saccharate for iron deficiency anemia in children and adolescents receiving long-term parenteral nutrition
MICHAUD, L., GUIMBER, D., MENTION, K., NEUVILLE, S., FROGER, H., GOTTRAND, F., TURCK, D.
Published in Clinical nutrition (Edinburgh, Scotland) (01.10.2002)
Published in Clinical nutrition (Edinburgh, Scotland) (01.10.2002)
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Journal Article
Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)
Mention, K, Michaud, L, Dobbelaere, D, Guimber, D, Gottrand, F, Turck, D
Published in Archives of disease in childhood. Fetal and neonatal edition (01.11.2001)
Published in Archives of disease in childhood. Fetal and neonatal edition (01.11.2001)
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Journal Article
Le médecin consultant pour les limitations et les arrêts de traitement en pédiatrie
Cremer, R., Fayoux, P., Guimber, D., Joriot, S., Laffargue, A., Lervat, C., Matthews, A., Mention, K., Sfeir, R., Storme, L., Thomas, D., Thumerelle, C., Vandoolaeghe, S.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.08.2012)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.08.2012)
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Journal Article
WS17.2 Rescue of the W1282X mutation by gene editing in human bronchial cells
Santos, L., Mention, K., Cavusoglu-Doran, K., Harrison, P.T., Farinha, C.M.
Published in Journal of cystic fibrosis (01.06.2020)
Published in Journal of cystic fibrosis (01.06.2020)
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Journal Article