Novel Proton MR Spectroscopy Findings in Adenylosuccinate Lyase Deficiency

por Zulfiqar, Maria, Lin, Doris D.M., Van der Graaf, Marinette, Barker, Peter B., Fahrner, Jill A., Marie, Sandrine, Morava, Eva, De Boer, Lonneke, Willemsen, Michel A.A.P, Vining, Eileen, Horská, Alena, Engelke, Udo, Wevers, Ron A., Maegawa, Gustavo H.B.
Publicado en J Magn Reson Imaging (2012)

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

por Mendes, Marisa I, Smith, Desirée EC, Pop, Ana, Lennertz, Pascal, Fernandez Ojeda, Matilde R, Kanhai, Warsha A, van Dooren, Silvy JM, Anikster, Yair, Barić, Ivo, Boelen, Caroline, Campistol, Jaime, de Boer, Lonneke, Kariminejad, Ariana, Kayserili, Hulya, Roubertie, Agathe, Verbruggen, Krijn T, Vianey‐Saban, Christine, Williams, Monique, Salomons, Gajja S
Publicado en Hum Mutat (2017)

International Paediatric Mitochondrial Disease Scale

por Koene, Saskia, Hendriks, Jan C. M., Dirks, Ilse, de Boer, Lonneke, de Vries, Maaike C., Janssen, Mirian C. H., Smuts, Izelle, Fung, Cheuk-Wing, Wong, Virginia C. N., de Coo, I. René F. M., Vill, Katharina, Stendel, Claudia, Klopstock, Thomas, Falk, Marni J., McCormick, Elizabeth M., McFarland, Robert, de Groot, Imelda J. M., Smeitink, Jan A. M.
Publicado en J Inherit Metab Dis (2016)

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

por de Brouwer, Arjan P.M., Abou Jamra, Rami, Körtel, Nadine, Soyris, Clara, Polla, Daniel L., Safra, Modi, Zisso, Avia, Powell, Christopher A., Rebelo-Guiomar, Pedro, Dinges, Nadja, Morin, Violeta, Stock, Michael, Hussain, Mureed, Shahzad, Mohsin, Riazuddin, Saima, Ahmed, Zubair M., Pfundt, Rolph, Schwarz, Franziska, de Boer, Lonneke, Reis, André, Grozeva, Detilina, Raymond, F. Lucy, Riazuddin, Sheikh, Koolen, David A., Minczuk, Michal, Roignant, Jean-Yves, van Bokhoven, Hans, Schwartz, Schraga
Publicado en Am J Hum Genet (2018)

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

por den Hollander, Bibiche, Rasing, Anne, Post, Merel A., Klein, Willemijn M., Oud, Machteld M., Brands, Marion M., de Boer, Lonneke, Engelke, Udo F. H., van Essen, Peter, Fuchs, Sabine A., Haaxma, Charlotte A., Jensson, Brynjar O., Kluijtmans, Leo A. J., Lengyel, Anna, Lichtenbelt, Klaske D., Østergaard, Elsebet, Peters, Gera, Salvarinova, Ramona, Simon, Marleen E. H., Stefansson, Kari, Thorarensen, Ólafur, Ulmen, Ulrike, Coene, Karlien L. M., Willemsen, Michèl A., Lefeber, Dirk J., van Karnebeek, Clara D. M.
Publicado en Front Neurol (2021)