van den Hout Johanna M - Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center

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论文共 31 篇作者统计合作学者相似作者

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Clinical Insights in Enzyme Replacement Therapy for Metabolic Storage Disorders: Lessons from Pompe Disease

Nadine A M E van der Beek, Maudy T M Theunissen,Johanna M P van den Hout, Wilhelmus W M Pijnappel,Benedikt Schoser,Pascal Laforêt,Giancarlo Parenti,Pieter A van Doorn,Ans T van der Ploeg

The Lancet Neurologyno. 3 (2025): 230-245

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The European Reference Network for Metabolic Diseases (metabern) Clinical Pathway Recommendations for Pompe Disease (acid Maltase Deficiency, Glycogen Storage Disease Type II)

Giancarlo Parenti,Simona Fecarotta,Marianna Alagia, Federica Attaianese,Alessandra Verde,Antonietta Tarallo,Vincenza Gragnaniello, Athanasia Ziagaki, Maria Jose’ Guimaraes,Patricio Aguiar,Andreas Hahn,Olga Azevedo,Maria Alice Donati,Beata Kiec-Wilk,Maurizio Scarpa,Nadine A. M. E. van der Beek, Mireja Del Toro Riera, Dominique P. Germain,Hidde Huidekoper,Johanna M. P. van den Hout,Ans T. van der Ploeg

Orphanet Journal of Rare Diseasesno. 1 (2024): 1-23

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Neurofilament Light Protein As a Biomarker for Spinal Muscular Atrophy: a Review and Reference Ranges

Sherif Bayoumy,Inge M. W. Verberk,Lisa Vermunt,Eline Willemse,Ben den Dulk,Ans T. van der Ploeg,Dasja Pajkrt, Elisa Nitz,Johanna M. P. van den Hout, Julie van der Post,Nicole I. Wolf,Shanice Beerepoot,Ewout J. N. Groen,Victoria Tuengler,Charlotte E. Teunissen

Clinical Chemistry and Laboratory Medicine (CCLM)no. 0 (2024)

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Brain Glycogen Build-Up Measured by Magnetic Resonance Spectroscopy in Classic Infantile Pompe Disease

Chloe Najac,Nadine A. M. E. van der Beek,Vincent O. Boer,Pieter A. van Doorn,Ans T. van der Ploeg,Itamar Ronen,Hermien E. Kan,Johanna M. P. van den Hout

BRAIN COMMUNICATIONSno. 5 (2024)

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Home-Based Infusion of Alglucosidase Alfa Can Safely Be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions

Imke A. M. Ditters,Harmke A. van Kooten,Nadine A. M. E. van der Beek, Jacqueline F. Hardon,Gamida Ismailova,Esther Brusse,Michelle E. Kruijshaar,Ans T. van der Ploeg,Johanna M. P. van den Hout,Hidde H. Huidekoper

BIODRUGSno. 5 (2023): 685-698

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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Abigail Veldman,M. B. Gea Kiewiet,Dineke Westra,Annet M. Bosch,Marion M. G. Brands, Rene 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 van der Velden, Jaqueline Schaefers,Andrea B. Schreuder,Gepke Visser,Ron A. Wevers,Frits A. Wijburg,M. Rebecca Heiner-Fokkema,Francjan J. van Spronsen

INTERNATIONAL JOURNAL OF NEONATAL SCREENINGno. 4 (2023)

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Analysis of Urinary Oligosaccharide Excretion Patterns by UHPLC/HRAM Mass Spectrometry for Screening of Lysosomal Storage Disorders

Marne C. Hagemeijer,Jeroen C. van den Bosch,Michiel Bongaerts,Edwin H. Jacobs,Johanna M. P. van den Hout,Esmee Oussoren,George J. G. Ruijter

JOURNAL OF INHERITED METABOLIC DISEASE（2023）

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Neurofilament Light and Its Association with CNS Involvement in Patients with Classic Infantile Pompe Disease

Maarten J. Mackenbach,Eline A. J. Willemse,Jan J. A. van den Dorpel,Nadine A. M. E. van der Beek,Jordi Diaz-Manera,Dimitris Rizopoulos,Charlotte Teunissen,Ans T. van der Ploeg,Johanna M. P. van den Hout

NEUROLOGY（2023）

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Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review

Imke A. M. Ditters,Harmke A. van Kooten,Nadine A. M. E. van der Beek,Ans T. van der Ploeg,Hidde H. Huidekoper,Johanna M. P. van den Hout

BIOMOLECULES（2023）

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