Hasil Pencarian - Gepke Visser

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  1. 1
    Genetic defect of the sodium‐dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency

    Genetic defect of the sodium‐dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency oleh Marit Schwantje, Monique de Sain‐van der Velden, Judith Jans, Koen van Gassen, Charlotte Dorrepaal, Klaas Koop, Gepke Visser

    Diterbitkan 2019-07-01
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  2. 2
    A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

    A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child oleh Lieke M. van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, Loek L. Crefcoeur, Gepke Visser, Mirjam Langeveld, Lidewij Henneman

    Diterbitkan 2023-06-01
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  3. 3
    Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns

    Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns oleh Loek L. Crefcoeur, M. Rebecca Heiner‐Fokkema, Rose E. Maase, Gepke Visser, Monique G. M. deSain‐van der Velden

    Diterbitkan 2023-01-01
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  4. 4
    PIGO deficiency: palmoplantar keratoderma and novel mutations

    PIGO deficiency: palmoplantar keratoderma and novel mutations oleh Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, NIHR BioResource, Ilenia Simeoni, Ernest Turro, Kathleen Freson

    Diterbitkan 2017-05-01
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  5. 5
    Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation

    Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation oleh Arie O. Verkerk, Arie O. Verkerk, Suzan J. G. Knottnerus, Suzan J. G. Knottnerus, Vincent Portero, Jeannette C. Bleeker, Jeannette C. Bleeker, Sacha Ferdinandusse, Kaomei Guan, Lodewijk IJlst, Gepke Visser, Gepke Visser, Ronald J. A. Wanders, Frits A. Wijburg, Connie R. Bezzina, Isabella Mengarelli, Riekelt H. Houtkooper

    Diterbitkan 2021-01-01
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  6. 6
    Exercise Stress Testing in Children with Metabolic or Neuromuscular Disorders

    Exercise Stress Testing in Children with Metabolic or Neuromuscular Disorders oleh Tim Takken, Wim G. Groen, Erik H. Hulzebos, Cornelia G. Ernsting, Peter M. van Hasselt, Berthil H. Prinsen, Paul J. Helders, Gepke Visser

    Diterbitkan 2010-01-01
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  7. 7
    Vitamin B6 in plasma and cerebrospinal fluid of children.

    Vitamin B6 in plasma and cerebrospinal fluid of children. oleh Monique Albersen, Marjolein Bosma, Judith J M Jans, Floris C Hofstede, Peter M van Hasselt, Monique G M de Sain-van der Velden, Gepke Visser, Nanda M Verhoeven-Duif

    Diterbitkan 2015-01-01
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  8. 8
    Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse

    Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse oleh Eugène F. Diekman, Michel van Weeghel, Mayte Suárez-Fariñas, Carmen Argmann, Pablo Ranea-Robles, Ronald J.A. Wanders, Gepke Visser, Ingeborg van der Made, Esther E. Creemers, Sander M. Houten

    Diterbitkan 2021-06-01
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  9. 9
    Neonatal carnitine concentrations in relation to gestational age and weight

    Neonatal carnitine concentrations in relation to gestational age and weight oleh Loek L. Crefcoeur, Monique G. M. deSain‐van der Velden, Sacha Ferdinandusse, Mirjam Langeveld, Rose Maase, Frédéric M. Vaz, Gepke Visser, Ronald J.A. Wanders, Frits A. Wijburg, Rendelien K. Verschoof‐Puite, Peter C. J. I. Schielen

    Diterbitkan 2020-11-01
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  10. 10
    Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates

    Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates oleh Suzan J. G. Knottnerus, Isabella Mengarelli, Rob C. I. Wüst, Antonius Baartscheer, Jeannette C. Bleeker, Ruben Coronel, Sacha Ferdinandusse, Kaomei Guan, Lodewijk IJlst, Wener Li, Xiaojing Luo, Vincent M. Portero, Ying Ulbricht, Gepke Visser, Ronald J. A. Wanders, Frits A. Wijburg, Arie O. Verkerk, Riekelt H. Houtkooper, Connie R. Bezzina

    Diterbitkan 2020-04-01
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  11. 11
    Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

    Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization oleh Kevin Stroek, Anita Boelen, Marelle J. Bouva, Monique De Sain‐van der Velden, Peter C. J. I. Schielen, Rose Maase, Henk Engel, Bernadette Jakobs, Leo A. J. Kluijtmans, Margot F. Mulder, M. E. Rubio‐Gozalbo, Francjan J. vanSpronsen, Gepke Visser, Maaike C. deVries, Monique Williams, Annemieke C. Heijboer, Evelien A. Kemper, Annet M. Bosch

    Diterbitkan 2020-07-01
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  12. 12
    A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

    A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening oleh Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen

    Diterbitkan 2023-10-01
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  13. 13
    Identification of human D lactate dehydrogenase deficiency

    Identification of human D lactate dehydrogenase deficiency oleh Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì, Paolo Bosco, Karin Geleijns, Monique G. M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften, Judith J. Jans

    Diterbitkan 2019-04-01
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