Intracranial bleeding due to vitamin K deficiency: advantages of using a pediatric intensive care registry

Por Visser, Désirée Y., Jansen, Nicolaas J., Ijland, Marloes M., de Koning, Tom J., van Hasselt, Peter M.
Publicado em 2011

A Mixed Micelle Formulation for Oral Delivery of Vitamin K

Por Sun, Feilong, Jaspers, Tessa C. C., van Hasselt, Peter M., Hennink, Wim E., van Nostrum, Cornelus F.
Publicado no Pharm Res (2016)

High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase

Por Heitink-Pollé, Katja M J, Prinsen, Berthil H. C. M. T., de Koning, Tom J, van Hasselt, Peter M, Bierings, Marc B
Publicado em 2012

Exercise Stress Testing in Children with Metabolic or Neuromuscular Disorders

Por Takken, Tim, Groen, Wim G., Hulzebos, Erik H., Ernsting, Cornelia G., van Hasselt, Peter M., Prinsen, Berthil H., Helders, Paul J., Visser, Gepke
Publicado em 2010

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion

Por Schene, Imre F., Kalinina Ayuso, Viera, de Sain-van der Velden, Monique, van Gassen, Koen L. I., Cuppen, Inge, van Hasselt, Peter M., Visser, Gepke
Publicado no JIMD Rep (2015)

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

Por Smits, Paulien, Antonicka, Hana, van Hasselt, Peter M, Weraarpachai, Woranontee, Haller, Wolfram, Schreurs, Marieke, Venselaar, Hanka, Rodenburg, Richard J, Smeitink, Jan A, van den Heuvel, Lambert P
Publicado em 2011

Vitamin B6 in Plasma and Cerebrospinal Fluid of Children

Por Albersen, Monique, Bosma, Marjolein, Jans, Judith J. M., Hofstede, Floris C., van Hasselt, Peter M., de Sain-van der Velden, Monique G. M., Visser, Gepke, Verhoeven-Duif, Nanda M.
Publicado no PLoS One (2015)

A New Approach for Fast Metabolic Diagnostics in CMAMMA

Por de Sain-van der Velden, Monique G. M., van der Ham, Maria, Jans, Judith J., Visser, Gepke, Prinsen, Hubertus C. M. T., Verhoeven-Duif, Nanda M., van Gassen, Koen L. I., van Hasselt, Peter M.
Publicado no JIMD Rep (2016)

Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation

Por Aldenhoven, Mieke, van den Broek, Brigitte T. A., Wynn, Robert F., O’Meara, Anne, Veys, Paul, Rovelli, Attilio, Jones, Simon A., Parini, Rossella, van Hasselt, Peter M., Renard, Marleen, Bordon, Victoria, de Koning, Tom J., Boelens, Jaap Jan
Publicado no Blood Adv (2017)

Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

Por Langereis, Eveline J, Borgo, Andrea, Crushell, Ellen, Harmatz, Paul R, van Hasselt, Peter M, Jones, Simon A, Kelly, Paula M, Lampe, Christina, van der Lee, Johanna H, Odent, Thierry, Sakkers, Ralph, Scarpa, Maurizio, Schafroth, Matthias U, Struijs, Peter A, Valayannopoulos, Vassili, White, Klane K, Wijburg, Frits A
Publicado em 2013

Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies

Por van den Broek, Brigitte T. A., Page, Kristin, Paviglianiti, Annalisa, Hol, Janna, Allewelt, Heather, Volt, Fernanda, Michel, Gerard, Diaz, Miguel Angel, Bordon, Victoria, O'Brien, Tracey, Shaw, Peter J., Kenzey, Chantal, Al-Seraihy, Amal, van Hasselt, Peter M., Gennery, Andrew R., Gluckman, Eliane, Rocha, Vanderson, Ruggeri, Annalisa, Kurtzberg, Joanne, Boelens, Jaap Jan
Publicado no Blood Adv (2018)

Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease

Por van Haaften-Visser, Désirée Y., Harakalova, Magdalena, Mocholi, Enric, van Montfrans, Joris M., Elkadri, Abdul, Rieter, Ester, Fiedler, Karoline, van Hasselt, Peter M., Triffaux, Emily M. M., van Haelst, Mieke M., Nijman, Isaac J., Kloosterman, Wigard P., Nieuwenhuis, Edward E. S., Muise, Aleixo M., Cuppen, Edwin, Houwen, Roderick H. J., Coffer, Paul J.
Publicado no J Biol Chem (2017)

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Por Lipstein, Noa, Verhoeven-Duif, Nanda M., Michelassi, Francesco E., Calloway, Nathaniel, van Hasselt, Peter M., Pienkowska, Katarzyna, van Haaften, Gijs, van Haelst, Mieke M., van Empelen, Ron, Cuppen, Inge, van Teeseling, Heleen C., Evelein, Annemieke M.V., Vorstman, Jacob A., Thoms, Sven, Jahn, Olaf, Duran, Karen J., Monroe, Glen R., Ryan, Timothy A., Taschenberger, Holger, Dittman, Jeremy S., Rhee, Jeong-Seop, Visser, Gepke, Jans, Judith J., Brose, Nils
Publicado no J Clin Invest (2017)

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Por van der Crabben, Saskia N., Hennus, Marije P., McGregor, Grant A., Ritter, Deborah I., Nagamani, Sandesh C.S., Wells, Owen S., Harakalova, Magdalena, Chinn, Ivan K., Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M., Terheggen-Lagro, Suzanne W., van Lieshout, Stef, van Roosmalen, Markus J., Renkens, Ivo, Duran, Karen, Nijman, Isaac J., Kloosterman, Wigard P., Hennekam, Eric, Orange, Jordan S., van Hasselt, Peter M., Wheeler, David A., Palecek, Jan J., Lehmann, Alan R., Oliver, Antony W., Pearl, Laurence H., Plon, Sharon E., Murray, Johanne M., van Haaften, Gijs
Publicado no J Clin Invest (2016)

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Por Gueneau, Lucie, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R., Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaityte, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J., Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M., Wiederkehr, Michaël, Wright, Caroline F., Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M., Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaëtan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S., Reymond, Alexandre
Publicado no Am J Hum Genet (2018)

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Por Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique
Publicado no Am J Hum Genet (2017)