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Sacha Ferdinandusse

Amsterdam UMC location University of Amsterdam

57H指数
216论文数
1.1W被引数
收录论文 87
发表时间
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders针对疑似遗传代谢病的成人优化诊断方法
err2026-09-05
err0
errOAAI
errMachteld M. Oud; Elise A. Ferreira; Clara D. M. van Karnebeek; Robin Wijngaard; Nicole I. Wolf; Marc Engelen; Mareen Datema; Sacha Ferdinandusse; André B. P. van Kuilenburg; Laura Steinbusch; Saskia N. van der Crabben; Mirjam Langeveld; the ZOEMBA Study Group
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Discovery of novel diagnostic biomarkers for Sjogren-Larsson syndrome by untargeted lipidomics
err2024-03-01
err2
errOAAI
errVaz, Frederic M.; Staps, Pippa; Klinken, Jan Bert van; van Lenthe, Henk; Vervaart, Martin; Wanders, Ronald J. A.; Pras-Raves, Mia L.; van Weeghel, Michel; Salomons, Gajja S.; Ferdinandusse, Sacha; Wevers, Ron A.; Willemsen, Michel A. A. P.
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Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders
err2024-02-19
err4
errOAAI
errSchwantje, Marit; Mosegaard, Signe; Knottnerus, Suzan J. G.; van Klinken, Jan Bert; Wanders, Ronald J.; van Lenthe, Henk; Hermans, Jill; IJlst, Lodewijk; Denis, Simone W.; Jaspers, Yorrick R. J.; Fuchs, Sabine A.; Houtkooper, Riekelt H.; Ferdinandusse, Sacha; Vaz, Frederic M.
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Vision on gyrate atrophy: why treat the eye?
err2023-12-14
err4
errOAAI
errBergen, Arthur A.; Buijs, Mark J. N.; ten Asbroek, Anneloor L. M. A.; Balfoort, Berith M.; Boon, Camiel J. F.; Diederen, Roselie R. M. H.; Ferdinandusse, Sacha; Ferreira, Elise A.; Schultink, Patrick; Timmer, Corrie; Vaz, Frederic M.; Verhaagen, Joost; Wagenmakers, Margreet A. E. M.; Waterham, Hans R.; Wijburg, Frits; Brands, Marion M.; Wanders, Ronald J. A.; van Karnebeek, Clara D. M.; Houtkooper, Riekelt H.
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Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
err2023-11-01
err1
errOAAI
errWaterham, Hans R.; Koster, Janet; Ebberink, Merel S.; Jesina, Pavel; Zeman, Jiri; Noskova, Lenka; Kmoch, Stanislav; Devic, Perrine; Cheillan, David; Wanders, Ronald J. A.; Ferdinandusse, Sacha
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Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases
err2023-10-01
err6
errOAAI
errBerner, Jakob; van de Wetering, Cheryl; Heredia, Raul Jimenez; Rashkova, Christina; Ferdinandusse, Sacha; Koster, Janet; Weiss, Johannes G.; Frohne, Alexandra; Giuliani, Sarah; Waterham, Hans R.; Castanon, Irinka; Brunner, Juergen; Boztug, Kaan
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Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
err2023-07-24
err3
errOAAI
errCrefcoeur, Loek; Ferdinandusse, Sacha; van der Crabben, Saskia N.; Dekkers, Eugenie; Fuchs, Sabine A.; Huidekoper, Hidde; Janssen, Mirian; Langendonk, Janneke; Maase, Rose; de Sain, Monique; Rubio, Estela; van Spronsen, Francjan J.; Vaz, Frederic Maxime; Verschoof, Rendelien; de Vries, Maaike; Wijburg, Frits; Visser, Gepke; Langeveld, Mirjam
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THE PHYSIOLOGICAL FUNCTIONS OF HUMAN PEROXISOMES
err2023-01-01
err64
errOAAI
errWanders, Ronald J. A.; Baes, Myriam; Ribeiro, Daniela; Ferdinandusse, Sacha; Waterham, Hans R.
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International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy A Consensus-Based Approach
err2022-11-22
err46
errOAAI
errEngelen, Marc; Van Ballegoij, Wouter J. C.; Mallack, Eric James; Van Haren, Keith P.; Kohler, Wolfgang; Salsano, Ettore; Van Trotsenburg, A. S. P.; Mochel, Fanny; Sevin, Caroline; Regelmann, Molly O.; Tritos, Nicholas A.; Halper, Alyssa; Lachmann, Robin H.; Davison, James; Raymond, Gerald V.; Lund, Troy C.; Orchard, Paul J.; Kuehl, Joern-Sven; Lindemans, Caroline A.; Caruso, Paul; Turk, Bela Rui; Moser, Ann B.; Vaz, Frederic M.; Ferdinandusse, Sacha; Kemp, Stephan; Fatemi, Ali; Eichler, Florian S.; Huffnagel, Irene C.
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Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease
err2022-02-11
err24
errOAAI
errLee, Richard G.; Balasubramaniam, Shanti; Stentenbach, Maike; Kralj, Tom; McCubbin, Timothy; Padman, Benjamin; Smith, Janine; Riley, Lisa G.; Priyadarshi, Archana; Peng, Liuyu; Nuske, Madison R.; Webster, Richard; Peacock, Ken; Roberts, Philip; Stark, Zornitza; Lemire, Gabrielle; Ito, Yoko A.; Boycott, Kym M.; Geraghty, Michael T.; Klinken, Jan Bert; Ferdinandusse, Sacha; Zhou, Ying; Walsh, Rebecca; Marcellin, Esteban; Thorburn, David R.; Rosciolli, Tony; Fletcher, Janice; Rackham, Oliver; Vaz, Frederic M.; Reid, Gavin E.; Filipovska, Aleksandra
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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
err2021-04-01
err30
errOAAI
errFerdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; Ijlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P. N.; van Lint, Alida E. M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Sacoto, Maria J. Guillen; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A.; Macnamara, Ellen F.; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J. G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H. C.; Wanders, Ronald J. A.; Waterham, Hans R.; Cassiman, David; Vaz, Frederic M.
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Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer使用稳定同位素示踪剂探索健康个体中中链甘油三酯的代谢命运
err2021-03-01
err12
PREAI
errKnottnerus, Suzan J. G.; van Harskamp, Dewi; Schierbeek, Henk; Bleeker, Jeannette C.; Crefcoeur, Loek L.; Ferdinandusse, Sacha; van Goudoever, Johannes B.; Houtkooper, Riekelt H.; IJlst, Lodewijk; Langeveld, Mirjam; Wanders, Ronald J. A.; Vaz, Frederic M.; Wijburg, Frits A.; Visser, Gepke
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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
err2020-06-27
err34
errOAAI
errTangeraas, Trine; Saeves, Ingjerd; Klingenberg, Claus; Jorgensen, Jens; Kristensen, Erle; Gunnarsdottir, Gunnporunn; Hansen, Eirik Vangsoy; Strand, Janne; Lundman, Emma; Ferdinandusse, Sacha; Salvador, Cathrin Lytomt; Woldseth, Berit; Bliksrud, Yngve T.; Sagredo, Carlos; Olsen, Oyvind E.; Berge, Mona C.; Tromborg, Anette Kjoshagen; Ziegler, Anders; Zhang, Jin Hui; Sorgjerd, Linda Karlsen; Ytre-Arne, Mari; Hogner, Silje; Lovoll, Siv M.; Klovstad Olavsen, Mette R.; Navarrete, Dionne; Gaup, Hege J.; Lilje, Rina; Zetterstrom, Rolf H.; Stray-Pedersen, Asbjorg; Rootwelt, Terje; Rinaldo, Piero; Rowe, Alexander D.; Pettersen, Rolf D.
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The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes
err2020-03-01
err3
errOAAI
errWelsink-Karssies, Mendy M.; van Weeghel, Michel; Hollak, Carla E. M.; Elfrink, Hyung L.; Janssen, Mirian C. H.; Lai, Kent; Langendonk, Janneke G.; Oussoren, Esmee; Ruiter, Jos P. N.; Treacy, Eileen P.; de Vries, Maaike; Ferdinandusse, Sacha; Bosch, Annet M.
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Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers
err2020-01-29
err25
errOAAI
errWelsink-Karssies, Mendy M.; Ferdinandusse, Sacha; Geurtsen, Gert J.; Hollak, Carla E. M.; Huidekoper, Hidde H.; Janssen, Mirian C. H.; Langendonk, Janneke G.; van der Lee, Johanna H.; O'Flaherty, Roisin; Oostrom, Kim J.; Roosendaal, Stefan D.; Rubio-Gozalbo, M. Estela; Saldova, Radka; Treacy, Eileen P.; Vaz, Fred M.; de Vries, Maaike C.; Engelen, Marc; Bosch, Annet M.
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ACOX3 Dysfunction as a Potential Cause of Recurrent Spontaneous Vasospasm of Internal Carotid Artery
err2020-01-23
err11
PREAI
errKim, Joon-Tae; Won, So Yeon; Kang, KyungWook; Kim, Sang-Hoon; Park, Man-Seok; Choi, Kang-Ho; Nam, Tai-Seung; Denis, Simone W.; Ferdinandusse, Sacha; Lee, Ji Eun; Choi, Seok-Yong; Kim, Myeong-Kyu
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Genome sequencing in persistently unsolved white matter disorders
err2020-01-07
err30
errOAAI
errHelman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole, I; Abbink, Truus E. M.; Kirwin, Susan M.; Tan, Christina M.; Hobson, Grace M.; Guo, Long; Ikegawa, Shiro; Pizzino, Amy; Schmidt, Johanna L.; Bernard, Genevieve; Schiffmann, Raphael; van der Knaap, Marjo S.; Simons, Cas; Taft, Ryan J.; Vanderver, Adeline
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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
errBRAIN
IF11.7
err2019-10-22
err76
errOAAI
errVaz, Frederic M.; McDermott, John H.; Alders, Marielle; Wortmann, Saskia B.; Koelker, Stefan; Pras-Raves, Mia L.; Vervaart, Martin A. T.; van Lenthe, Henk; Luyf, Angela C. M.; Elfrink, Hyung L.; Metcalfe, Kay; Cuvertino, Sara; Clayton, Peter E.; Yarwood, Rebecca; Lowe, Martin P.; Lovell, Simon; Rogers, Richard C.; van Kampen, Antoine H. C.; Ruiter, Jos P. N.; Wanders, Ronald J. A.; Ferdinandusse, Sacha; van Weeghel, Michel; Engelen, Marc; Banka, Siddharth
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A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency在SLC22A5 5'utr中产生上游翻译起始密码子的突变是原发性肉碱缺乏症的常见原因
err2019-07-03
err21
errOAAI
errFerdinandusse, Sacha; te Brinke, Heleen; Ruiter, Jos P. N.; Haasjes, Janet; Oostheim, Wendy; van Lenthe, Henk; IJlst, Lodewijk; Ebberink, Merel S.; Wanders, Ronald J. A.; Vaz, Frederic M.; Waterham, Hans R.
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Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research
err2018-08-24
err3
errOAAI
errvan Weeghel, Michel; Welling, Lindsey; Treacy, Eileen P.; Wanders, Ronald J. A.; Ferdinandusse, Sacha; Bosch, Annet M.
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