Sacha Ferdinandusse - Dept. of Clinical Chemistry and Div. Emma Children's Hospital, University of Amsterdam

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论文共 235 篇作者统计合作学者相似作者

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Periodic Paralysis in a Child with Thermosensitive Mitochondrial Trifunctional Protein Deficiency

Fatema Al-Amrani,Jos P N Ruiter, Mirjam Doolaard, Alok Kumar,Sacha Ferdinandusse,Khalid Al-Thihli

American journal of medical genetics Part A（2024）

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Novel Biallelic Variants Expand the Phenotypic Spectrum of FAR1-related Disorder

Hatice Tasan,Arisha Rasheed, Amatul Raqeeb, Jonas Setzke,Barbara Vona,Go Hun Seo,Yamna Kriouile,Javeria Raza Alvi,Elisa Cali,Vincenzo Salpietro,Tipu Sultan,Reza Maroofian,Sadaf Naz,Henry Houlden,Sacha Ferdinandusse,Stephanie Efthymiou

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 536-536

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Discovery of Novel Diagnostic Biomarkers for Sjögren-Larsson Syndrome by Untargeted Lipidomics

Frederic M. Vaz,Pippa Staps,Jan Bert van Klinken,Henk van Lenthe,Martin Vervaart,Ronald J. A. Wanders,Mia L. Pras-Raves,Michel van Weeghel,Gajja S. Salomons,Sacha Ferdinandusse,Ron A. Wevers,Michel A. A. P. Willemsen

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDSno. 2 (2024)

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Tracer‐based lipidomics enables the discovery of disease‐specific candidate biomarkers in mitochondrial β‐oxidation disorders

Marit Schwantje,Signe Mosegaard,Suzan J. G. Knottnerus,Jan Bert van Klinken,Ronald J. Wanders,Henk van Lenthe,Jill Hermans, Lodewijk IJlst, Simone W. Denis,Yorrick R. J. Jaspers,Sabine A. Fuchs,Riekelt H. Houtkooper,Sacha Ferdinandusse,Frédéric M. Vaz

The FASEB Journalno. 4 (2024)

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Disorders of Fatty Acid Homeostasis

Frédéric M Vaz,Sacha Ferdinandusse,Gajja S Salomons,Ronald J A Wanders

Journal of inherited metabolic disease (2024)

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Gyrate Atrophy of the Choroid and Retina: Novel Insights in Phenotype, Diagnosis, and Treatment Outcomes

Berith Balfoort, Anneloor ten Asbroek,Arthur Bergen, Camiel Boon,Mark Buijs, Roselie Diederen,Sacha Ferdinandusse,Riekelt Houtkooper,Bregje Jaeger,Corrie Timmer,Frederic Vaz, Margreet Wagenmakers, Ronald Wanders,Hans Waterham,Marion Brands, Clara van Karnebeek

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 432-432

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Extending Diagnostic Practices in Gyrate Atrophy: Enzymatic Characterization and the Development of an in Vitro Pyridoxine Responsiveness Assay

Berith M. Balfoort,Gioena Pampalone,Jos P. N. Ruiter,Simone W. Denis,Marion M. Brands, G. A. C. R. Bird's Eye View Consortium,Corrie Timmer,Margreet A. E. M. Wagenmakers, Ronald J. A. Wanders,Clara D. van Karnebeek,Barbara Cellini,Riekelt H. Houtkooper,Sacha Ferdinandusse

MOLECULAR GENETICS AND METABOLISMno. 1-2 (2024)

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Newborn Screening for Primary Carnitine Deficiency: Who Will Benefit? - a Retrospective Cohort Study

Loek Crefcoeur,Sacha Ferdinandusse,Saskia N. van der Crabben,Eugenie Dekkers,Sabine A. Fuchs,Hidde Huidekoper,Mirian Janssen,Janneke Langendonk,Rose Maase, Monique de Sain, Estela Rubio,Francjan J. van Spronsen,Frederic Maxime Vaz, Rendelien Verschoof,Maaike de Vries,Frits Wijburg,Gepke Visser,Mirjam Langeveld

Journal of Medical Geneticsno. 12 (2023): 1177-1185

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Tracer-based Lipidomics Identifies Novel Disease-Specific Biomarkers in Mitochondrial Β-Oxidation Disorders

Marit Schwantje,Signe Mosegaard,Suzan J. G. Knottnerus,Jan Bert van Klinken,Ronald J. Wanders,Henk van Lenthe,Jill Hermans,Lodewijk IJlst,Simone W. Denis,Yorrick R. J. Jaspers,Sabine A. Fuchs,Riekelt H. Houtkooper,Sacha Ferdinandusse,Frederic M. Vaz

bioRxiv (Cold Spring Harbor Laboratory) (2023)

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