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Displaying 15 results.
    • Journal article
    Cryopreserved liver cell transplantation controls ornithine transcarbamylase deficient patient while awaiting liver transplantation.
    Stéphenne, Xavier[UCL] Najimi, Mustapha[UCL] Smets, Françoise[UCL] Reding, Raymond[UCL] de Ville de Goyet, Jean[UCL] Sokal, Etienne[UCL] (2005) American Journal of Transplantation — Vol. 5, no. 8, p. 2058-2061 (2005)
    • Journal article
    Automated analysis of delta-aminolaevulinic acid in urine
    Lauwerys, Robert[UCL] Delbroeck, R. Vens, M. D. (1972) Clinica Chimica Acta — Vol. 40, no.2, p. 443-447 (1972)
    • Journal article
    Maladie métabolique connue : bilan pré-opératoire et stratégie anesthésique
    Grosu, I[UCL] Scholtes, Jean-Louis[UCL] Veyckemans, Francis[UCL] (2010) Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie — Vol. 17, no. 6, p. 949-950 (2010)
    • Journal article
    A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.
    Méneret, Aurélie Wiame, Elsa[UCL] Marelli, Cecilia Lenglet, Timothée Van Schaftingen, Emile[UCL] Sedel, Frédéric (2012) Archives of Neurology — Vol. 69, no.7, p. 908-11 (2012)
    • Journal article
    Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies
    Verloes, Alain Lombet, Jacques Lambert, Yves Hubert, Anne-Frédérique[UCL] Deprez, Manuel Fridman, Viviana Gosseye, Serge[UCL] Rigo, Jacques Sokal, Etienne[UCL] (1997) American Journal of Medical Genetics — Vol. 68, no. 4, p. 391-395 (1997)
    • Journal article
    Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
    Hart, Claire E Race, Valerie Achouri, Younes[UCL] Wiame, Elsa[UCL] Sharrard, Mark Olpin, Simon E Watkinson, Jennifer Bonham, James R Jaeken, Jaak Matthijs, Gert Van Schaftingen, Emile[UCL] (2007) American journal of human genetics — Vol. 80, no. 5, p. 931-7 (2007)
    • Journal article
    Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
    Struys, Eduard A Korman, Stanley H Salomons, Gajja S Darmin, Patricia S Achouri, Younes[UCL] Van Schaftingen, Emile[UCL] Verhoeven, Nanda M Jakobs, Cornelis (2005) Annals of Neurology — Vol. 58, no. 4, p. 626-630 (2005)
    • Journal article
    Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
    Nogueira, Célia Aiello, Chiara Cerone, Roberto Martins, Esmeralda Caruso, Ubaldo Moroni, Isabella Rizzo, Cristiano Diogo, Luísa Leão, Elisa Kok, Fernando Deodato, Federica Schiaffino, Maria Cristina Boenzi, Sara Danhaive, Olivier[UCL] Barbot, Clara Sequeira, Sílvia Locatelli, Mattia Santorelli, Filippo M Uziel, Graziella Vilarinho, Laura Dionisi-Vici, Carlo (2008) Molecular genetics and metabolism — Vol. 93, no.4, p. 475-480 (2008)
    • Journal article
    Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
    Paquay, Stéphanie[UCL] Bourillon, Agnès Pichard, Samia Benoist, Jean-François de Lonlay, Pascale Dobbelaere, Dries Fouilhoux, Alain Guffon, Nathalie Rouvet, Isabelle Labarthe, François Mention, Karine Touati, Guy Valayannopoulos, Vassili Ogier de Baulny, Hélène Elmaleh-Bergès, Monique Acquaviva-Bourdain, Cécile Vianey-Saban, Christine Schiff, Manuel (2017) Journal of Inherited Metabolic Disease — Vol. 40, no.3, p. 415-422 (2017)
    • Journal article
    L-2-Hydroxyglutaric aciduria, a disorder of metabolite repair.
    Van Schaftingen, Emile[UCL] Rzem, Rim[UCL] Veiga da Cunha, Maria[UCL] (2009) Journal of Inherited Metabolic Disease — Vol. 32, no. 2, p. 135-142 (2009)
    • Journal article
    Liver transplantation for hereditary tyrosinemia--early transplantation following the patient's stabilization.
    Sokal, Etienne[UCL] Bustos, R Van Hoof, François[UCL] Otte, Jean-Bernard[UCL] (1992) Transplantation — Vol. 54, no. 5, p. 937-9 (1992)
    • Journal article
    3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.
    Jaeken, J Detheux, M Van Maldergem, L Foulon, M Carchon, H Van Schaftingen, Emile[UCL] (1996) Archives of Disease in Childhood — Vol. 74, no.6, p. 542-5 (1996)
    • Journal article
    Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.
    Struys, Eduard A. Salomons, Gajja S. Achouri, Younes[UCL] Van Schaftingen, Emile[UCL] Grosso, Salvatore Craigen, William J. Verhoeven, Nanda M. Jakobs, Cornelis (2005) American Journal of Human Genetics — Vol. 76, no. 2, p. 358-360 (2005)
    • Journal article
    Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
    Baumgartner, Matthias R Rabier, Daniel Nassogne, Marie-Cécile[UCL] Dufier, Jean-Louis Padovani, Jean-Paul Kamoun, Pierre Valle, David Saudubray, Jean-Marie (2005) European journal of pediatrics — Vol. 164, no.1, p. 31-36 (2005)
    • Journal article
    Stroke et pseudo-stroke d'origine héréditaire métabolique à l'âge adulte
    Nassogne, Marie-Cécile[UCL] Touati, G Beyler, C Saudubray, J M (2001) La Revue de médecine interne — Vol. 22 Suppl 3, p. 338s-346s (2001)