檢索結果 - Peter M. VanHasselt

Refine Results
  1. 1
    Glucose transporter type 1 deficiency syndrome and the ketogenic diet

    Glucose transporter type 1 deficiency syndrome and the ketogenic diet 由 Marit Schwantje, Lilly M. Verhagen, Peter M. van Hasselt, Sabine A. Fuchs

    出版 2019
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  2. 2
    Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies

    Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies 由 Hanneke A. Haijes, Peter M. van Hasselt, Judith Jans, Nanda M. Verhoeven‐Duif

    出版 2019
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  3. 3
    A Mixed Micelle Formulation for Oral Delivery of Vitamin K

    A Mixed Micelle Formulation for Oral Delivery of Vitamin K 由 Feilong Sun, Tessa Jaspers, Peter M. van Hasselt, Wim E. Hennink, Cornelus F. van Nostrum

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

    Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications 由 Hanneke A. Haijes, Judith Jans, Simone Y. Tas, Nanda M. Verhoeven‐Duif, Peter M. van Hasselt

    出版 2019
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  5. 5
    High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase

    High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase 由 Katja M. J. Heitink‐Pollé, Berthil H.C.M.T. Prinsen, Tom J. de Koning, Peter M. van Hasselt, Marc Bierings

    出版 2012
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

    Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation 由 Jürgen Lübbehusen, Christian Thiel, Nina Rind, Dániel Ungár, Berthil H.C.M.T. Prinsen, Tom J. de Koning, Peter M. van Hasselt, Christian Körner

    出版 2010
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    Setting the Stage for Treatment of Aminoacyl‐<scp>tRNA</scp> Synthetase (<scp>ARS</scp>)1‐Deficiencies: Phenotypic Characterization and a Review of Treatment Effects

    Setting the Stage for Treatment of Aminoacyl‐<scp>tRNA</scp> Synthetase (<scp>ARS</scp>)1‐Deficiencies: Phenotypic Characterization and a Review of Treatment Effects 由 Eva M. M. Hoytema van Konijnenburg, Joline Rohof, Gautam Kok, Peter M. van Hasselt, Clara D.M. van Karnebeek, Irena Muffels, Sabine A. Fuchs

    出版 2025
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  8. 8
    Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone

    Impaired Cognitive Functioning in Patients with Tyrosinemia Type I Receiving Nitisinone 由 Fatiha Bendadi, Tom J. de Koning, Gepke Visser, Hubertus C.M.T. Prinsen, Monique G.M. de Sain, Nanda M. Verhoeven‐Duif, Gerben Sinnema, Francjan J. van Spronsen, Peter M. van Hasselt

    出版 2013
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Hematopoietic Cell Transplantation for Mucopolysaccharidosis Patients Is Safe and Effective: Results after Implementation of International Guidelines

    Hematopoietic Cell Transplantation for Mucopolysaccharidosis Patients Is Safe and Effective: Results after Implementation of International Guidelines 由 Mieke Aldenhoven, Simon Jones, Denise Bonney, Roisin Borrill, Mary Coussons, Jean Mercer, Marc Bierings, Birgitta Versluys, Peter M. van Hasselt, Frits A. Wijburg, Ans T. van der Ploeg, Robert Wynn, Jaap Jan Boelens

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    Prevention of Vitamin K Deficiency Bleeding in Breastfed Infants: Lessons From the Dutch and Danish Biliary Atresia Registries

    Prevention of Vitamin K Deficiency Bleeding in Breastfed Infants: Lessons From the Dutch and Danish Biliary Atresia Registries 由 Peter M. van Hasselt, Tom J. de Koning, Nina Kvist, Elsemieke de Vries, Christina Rydahl Lundin, Ruud Berger, Jan L. L. Kimpen, Roderick H.J. Houwen, Marianne Hørby Jørgensen, Henkjan J. Verkade

    出版 2008
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass‐spectrometry

    Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass‐spectrometry 由 Hubertus C.M.T. Prinsen, Birgit G. M. Schiebergen-Bronkhorst, Martin W. Roeleveld, Judith Jans, Monique G.M. de Sain‐van der Velden, Gepke Visser, Peter M. van Hasselt, N. M. Verhoeven‐Duif

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  12. 12
    Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience

    Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience 由 Diane F. van Rappard, Jaap Jan Boelens, Martje E. van Egmond, Jürgen Kuball, Peter M. van Hasselt, Kim J. Oostrom, Petra J. W. Pouwels, Marjo S. van der Knaap, Carla E. M. Hollak, Nicole I. Wolf

    出版 2016
    獲取全文 獲取全文
    Carta
    加到收藏夾
    Saved in:
  13. 13
    Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma

    Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma 由 Hanneke A. Haijes, Marcel Willemsen, Maria van der Ham, Johan Gerrits, Mia L. Pras‐Raves, Hubertus C.M.T. Prinsen, Peter M. van Hasselt, Monique G.M. de Sain‐van der Velden, Nanda M. Verhoeven‐Duif, Judith Jans

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis

    Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis 由 Gemma Gomez‐Giro, Jonathan Arias, Javier Jarazo, Dagmar Zeuschner, Muhammad Ali, Nina Possemis, Silvia Bolognin, Rashi Halder, Christian Jäger, Willemijn F. E. Kuper, Peter M. van Hasselt, Holm Zaehres, Antonio del Sol, Herman van der Putten, Hans R. Schöler, Jens C. Schwamborn

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    Prime editing for functional repair in patient-derived disease models

    Prime editing for functional repair in patient-derived disease models 由 Imre F. Schene, Indi P. Joore, Rurika Oka, Michal Mokrý, Anke H.M. van Vugt, Ruben van Boxtel, Hubert P. J. van der Doef, Luc J. W. van der Laan, Monique M.A. Verstegen, Peter M. van Hasselt, Edward E. S. Nieuwenhuis, Sabine A. Fuchs

    出版 2020
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  16. 16
    Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure

    Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure 由 Eveline J. Langereis, Andrea Borgo, Ellen Crushell, Paul Harmatz, Peter M. van Hasselt, Simon Jones, Paula M. Kelly, Christina Lampe, Johanna H. van der Lee, Thierry Odent, Ralph J. B. Sakkers, Maurizio Scarpa, Matthias U. Schafroth, Peter Struijs, Vassili Valayannopoulos, Klane K. White, Frits A. Wijburg

    出版 2013
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  17. 17
    Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction

    Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction 由 Nicole I. Wolf, Marjolein Breur, Bonnie C. Plug, Shanice Beerepoot, Aimee S. R. Westerveld, Diane F. van Rappard, Sharon I. de Vries, Maarten H. P. Kole, Adeline Vanderver, Marjo S. van der Knaap, Caroline A. Lindemans, Peter M. van Hasselt, Jaap Jan Boelens, Ulrich Matzner, Volkmar Gieselmann, Marianna Bugiani

    出版 2020
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy

    Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy 由 Lynne Rumping, Benjamin Büttner, Oliver Maier, Holger Rehmann, Maarten H. Lequin, Jan-Ulrich Schlump, Bernhard Schmitt, Birgit G. M. Schiebergen-Bronkhorst, Hubertus C.M.T. Prinsen, M. Losa, Ralph Fingerhut, Johannes R. Lemke, Fried Zwartkruis, Roderick H.J. Houwen, Judith Jans, Nanda M. Verhoeven‐Duif, Peter M. van Hasselt, Rami Abou Jamra

    出版 2018
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  19. 19
    Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies

    Early and late outcomes after cord blood transplantation for pediatric patients with inherited leukodystrophies 由 Brigitte T. A. van den Broek, Kristin Page, Annalisa Paviglianiti, Janna A. Hol, Heather Allewelt, Fernanda Volt, Gérard Michel, Miguel Ángel Díaz, Victoria Bordon, Tracey O’Brien, Peter J. Shaw, Chantal Kenzey, Amal Al-Seraihy, Peter M. van Hasselt, Andrew R. Gennery, Éliane Gluckman, Vanderson Rocha, Annalisa Ruggeri, Joanne Kurtzberg, Jaap Jan Boelens

    出版 2018
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  20. 20
    Aminoacyl-tRNA synthetase deficiencies in search of common themes

    Aminoacyl-tRNA synthetase deficiencies in search of common themes 由 Sabine A. Fuchs, Imre F. Schene, Gautam Kok, J. Jansen, Peter G. J. Nikkels, Koen L.I. van Gassen, Suzanne W. J. Terheggen-Lagro, Saskia N. van der Crabben, Sanne E. Hoeks, Laetitia E.M. Niers, Nicole I. Wolf, Maaike C. de Vries, David A. Koolen, Roderick H.J. Houwen, Margot F. Mulder, Peter M. van Hasselt

    出版 2018
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: