Works by Ferdinandusse, Sacha

Results: 70

Severe Fat Accumulation in Multiple Organs in Pediatric Autopsies: An Uncommon but Significant Finding.
Published in:
Pediatric & Developmental Pathology, 2017, v. 20, n. 4, p. 269, doi. 10.1177/1093526617691708
By:
- Bleeker, Jeannette C.;
- Visser, Gepke;
- Wijburg, Frits A.;
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Nikkels, Peter G. J.
Publication type:
Article
A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1899, doi. 10.1002/humu.23839
By:
- Ferdinandusse, Sacha;
- te Brinke, Heleen;
- Ruiter, Jos P.N.;
- Haasjes, Janet;
- Oostheim, Wendy;
- Lenthe, Henk;
- IJlst, Lodewijk;
- Ebberink, Merel S.;
- Wanders, Ronald J.A.;
- Vaz, Frédéric M.;
- Waterham, Hans R.
Publication type:
Article
Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.
Published in:
Histochemistry & Cell Biology, 2017, v. 147, n. 4, p. 537, doi. 10.1007/s00418-016-1532-6
By:
- Klouwer, Femke;
- Koster, Janet;
- Ferdinandusse, Sacha;
- Waterham, Hans
Publication type:
Article
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2025, v. 197, n. 2, p. 1, doi. 10.1002/ajmg.a.63900
By:
- Al‐Amrani, Fatema;
- Ruiter, Jos P. N.;
- Doolaard, Mirjam;
- Kumar, Alok;
- Ferdinandusse, Sacha;
- Al‐Thihli, Khalid
Publication type:
Article
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 357, doi. 10.1002/ajmg.a.62520
By:
- Werner, Kelly M.;
- Cox, Allison J.;
- Qian, Emily;
- Jain, Preti;
- Ji, Weizhen;
- Tikhonova, Irina;
- Castaldi, Christopher;
- Bilguvar, Kaya;
- Knight, James;
- Ferdinandusse, Sacha;
- Fawaz, Rima;
- Jiang, Yong‐Hui;
- Gallagher, Patrick G.;
- Bizzarro, Matthew;
- Gruen, Jeffrey R.;
- Bale, Allen;
- Zhang, Hui
Publication type:
Article
ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 157, doi. 10.1002/ajmg.a.61936
By:
- Simon, Mariella T.;
- Eftekharian, Shaya S.;
- Ferdinandusse, Sacha;
- Tang, Sha;
- Naseri, Take;
- Reupena, Muagututi'a Sefuiva;
- McGarvey, Stephen T.;
- Minster, Ryan L.;
- Weeks, Daniel E.;
- Nguyen, Daniel D.;
- Lee, Sansan;
- Ellsworth, Katarzyna A.;
- Vaz, Frédéric M.;
- Dimmock, David;
- Pitt, James;
- Abdenur, Jose E.
Publication type:
Article
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 780, doi. 10.1002/ajmg.a.61498
By:
- D'Gama, Alissa M.;
- Brucker, William J.;
- Zhang, Tian;
- Gubbels, Cynthia S.;
- Ferdinandusse, Sacha;
- Shi, Jiahai;
- Grant, Patricia Ellen;
- VanNoy, Grace;
- Genetti, Casie A.;
- Juusola, Jane;
- Yu, Timothy W.;
- Kritzer, Amy;
- Agrawal, Pankaj B.
Publication type:
Article
Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1115, doi. 10.1002/ajmg.a.38658
By:
- Fitzsimons, Patricia E.;
- Alston, Charlotte L.;
- Bonnen, Penelope E.;
- Hughes, Joanne;
- Crushell, Ellen;
- Geraghty, Michael T.;
- Tetreault, Martine;
- O'Reilly, Peter;
- Twomey, Eilish;
- Sheikh, Yusra;
- Walsh, Richard;
- Waterham, Hans R.;
- Ferdinandusse, Sacha;
- Wanders, Ronald J. A.;
- Taylor, Robert W.;
- Pitt, James J.;
- Mayne, Philip D.
Publication type:
Article
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a <italic>NADK2</italic> start loss variant.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 692, doi. 10.1002/ajmg.a.38602
By:
- Pomerantz, Daniel J.;
- Ferdinandusse, Sacha;
- Cogan, Joy;
- Cooper, David N.;
- Reimschisel, Tyler;
- Robertson, Amy;
- Bican, Anna;
- McGregor, Tracy;
- Gauthier, Jackie;
- Millington, David S.;
- Andrae, Jaime L. W.;
- Tschannen, Michael R.;
- Helbling, Daniel C.;
- Demos, Wendy M.;
- Denis, Simone;
- Wanders, Ronald J. A.;
- Newman, John N.;
- Hamid, Rizwan;
- Phillips, III, John A.;
- Collaborators of UDN
Publication type:
Article
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.
Published in:
Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
By:
- Alabdulrazzaq, Fatima;
- Alanzi, Talal;
- Al‐Balool, Haya H.;
- Gardham, Alice;
- Wakeling, Emma;
- Leitch, Harry G.;
- AlSayed, Moeenaldeen;
- Abdulrahim, Maha;
- Aladwani, Abdulaziz;
- Romito, Antonio;
- Kampe, Kapil;
- Ferdinandusse, Sacha;
- Aboelanine, Ashraf H.;
- Abdullah, Amira;
- Alwadani, Amal;
- Bastaki, Laila;
- Vaz, Frédéric M.;
- Bertoli‐Avella, Aida M.;
- Marafi, Dana
Publication type:
Article
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Published in:
Human Mutation, 2007, v. 28, n. 9, p. 904, doi. 10.1002/humu.20535
By:
- Ferdinandusse, Sacha;
- Denis, Simone;
- Hogenhout, Eveline M.;
- Koster, Janet;
- van Roermund, Carlo W.T.;
- IJlst, Lodewijk;
- Moser, Ann B.;
- Wanders, Ronald J.A.;
- Waterham, Hans R.
Publication type:
Article
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Published in:
Genes, 2021, v. 12, n. 12, p. 1930, doi. 10.3390/genes12121930
By:
- van de Stadt, Stephanie I. W.;
- Mooyer, Petra A. W.;
- Dijkstra, Inge M. E.;
- Dekker, Conny J. M.;
- Vats, Divya;
- Vera, Moin;
- Ruzhnikov, Maura R. Z.;
- van Haren, Keith;
- Tang, Nelson;
- Koop, Klaas;
- Willemsen, Michel A.;
- Hui, Joannie;
- Vaz, Frédéric M.;
- Ebberink, Merel S.;
- Engelen, Marc;
- Kemp, Stephan;
- Ferdinandusse, Sacha
Publication type:
Article
Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report.
Published in:
2022
By:
- Stolwijk, Nina N.;
- Langeveld, Mirjam;
- Jacobs, Bart A. W.;
- Vogt, Liffert;
- Haverkamp, Jorien A.;
- Ferdinandusse, Sacha;
- Hollak, Carla E. M.
Publication type:
Case Study
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 61, n. 1, p. 12, doi. 10.1002/jmd2.12223
By:
- Hagemeijer, Marne C.;
- Oussoren, Esmee;
- Ruijter, George J. G.;
- Onkenhout, Willem;
- Huidekoper, Hidde H.;
- Ebberink, Merel S.;
- Waterham, Hans R.;
- Ferdinandusse, Sacha;
- de Vries, Maaike C.;
- Huigen, Marleen C. D. G.;
- Kluijtmans, Leo A. J.;
- Coene, Karlien L. M.;
- Blom, Henk J
Publication type:
Article
Neonatal carnitine concentrations in relation to gestational age and weight.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 95, doi. 10.1002/jmd2.12162
By:
- Crefcoeur, Loek L.;
- Sain‐van der Velden, Monique G. M.;
- Ferdinandusse, Sacha;
- Langeveld, Mirjam;
- Maase, Rose;
- Vaz, Frédéric M.;
- Visser, Gepke;
- Wanders, Ronald J.A.;
- Wijburg, Frits A.;
- Verschoof‐Puite, Rendelien K.;
- Schielen, Peter C. J. I.
Publication type:
Article
Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 61, doi. 10.1002/jmd2.12099
By:
- Staps, Pippa;
- Gaalen, Judith;
- Domburg, Peter.;
- Steijlen, Peter M.;
- Ferdinandusse, Sacha;
- Heijer, Tom;
- Seyger, Marieke M. B.;
- Theelen, Thomas;
- Willemsen, Michèl A. A. P.
Publication type:
Article
A case of d-bifunctional protein deficiency: Clinical, biochemical and molecular investigations.
Published in:
Pediatrics International, 2011, v. 53, n. 4, p. 583, doi. 10.1111/j.1442-200X.2010.03255.x
By:
- Ghirri, Paolo;
- Vuerich, Marco;
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Guzzetta, Andrea;
- Bianchi, Maria C.;
- Boldrini, Antonio;
- Wanders, Ronald J.A.
Publication type:
Article
Clinical and biochemical spectrum of D‐bifunctional protein deficiency.
Published in:
Annals of Neurology, 2006, v. 59, n. 1, p. 92, doi. 10.1002/ana.20702
By:
- Sacha Ferdinandusse;
- Simone Denis;
- Petra A. W. Mooyer;
- Conny Dekker;
- Marinus Duran;
- Roelineke J. Soorani‐Lunsing;
- Eugen Boltshauser;
- Alfons Macaya;
- Jutta Gärtner;
- Charles B. L. M. Majoie;
- Peter G. Barth;
- Ronald J. A. Wanders;
- Bwee Tien Poll‐The
Publication type:
Article
Tracer‐based lipidomics enables the discovery of disease‐specific candidate biomarkers in mitochondrial β‐oxidation disorders.
Published in:
FASEB Journal, 2024, v. 38, n. 4, p. 1, doi. 10.1096/fj.202302163R
By:
- Schwantje, 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, Frédéric M.
Publication type:
Article
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
Published in:
Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2020.616834
By:
- Verkerk, Arie O.;
- Knottnerus, Suzan J. G.;
- Portero, Vincent;
- Bleeker, Jeannette C.;
- Ferdinandusse, Sacha;
- Guan, Kaomei;
- IJlst, Lodewijk;
- Visser, Gepke;
- Wanders, Ronald J. A.;
- Wijburg, Frits A.;
- Bezzina, Connie R.;
- Mengarelli, Isabella;
- Houtkooper, Riekelt H.
Publication type:
Article
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.
Published in:
Human Molecular Genetics, 2000, v. 9, n. 8, p. 1195, doi. 10.1093/hmg/9.8.1195
By:
- Jansen, Gerbert A.;
- Hogenhout, Eveline M.;
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Ofman, Rob;
- Jakobs, Cornelis;
- Skjeldal, Ola H.;
- Wanders, Ronald J.A.
Publication type:
Article
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
Published in:
Nature Genetics, 2000, v. 24, n. 2, p. 188, doi. 10.1038/72861
By:
- Ferdinandusse, Sacha;
- Denis, Simone;
- Clayton, Peter T.;
- Graham, Andrew;
- Rees, John E.;
- Allen, John T.;
- McLean, Brendan N.;
- Brown, Ann Y.;
- Vreken, Peter;
- Waterham, Hans R.;
- Wanders, Ronald J.A.
Publication type:
Article
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2589, doi. 10.3390/ijms21072589
By:
- Knottnerus, Suzan J. G.;
- Mengarelli, Isabella;
- Wüst, Rob C. I.;
- Baartscheer, Antonius;
- Bleeker, Jeannette C.;
- Coronel, Ruben;
- Ferdinandusse, Sacha;
- Guan, Kaomei;
- IJlst, Lodewijk;
- Li, Wener;
- Luo, Xiaojing;
- Portero, Vincent M.;
- Ulbricht, Ying;
- Visser, Gepke;
- Wanders, Ronald J. A.;
- Wijburg, Frits A.;
- Verkerk, Arie O.;
- Houtkooper, Riekelt H.;
- Bezzina, Connie R.
Publication type:
Article
Peroxisomal branched chain fatty acid -oxidation pathway is upregulated in prostate cancer.
Published in:
Prostate, 2005, v. 63, n. 4, p. 316, doi. 10.1002/pros.20177
By:
- Shan Zha;
- Sacha Ferdinandusse;
- Jessica L. Hicks;
- Simone Denis;
- Thomas A. Dunn;
- Ronald J. Wanders;
- Jun Luo;
- Angelo M. De Marzo;
- William B. Isaacs
Publication type:
Article
Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses.
Published in:
Prenatal Diagnosis, 2013, v. 33, n. 2, p. 201, doi. 10.1002/pd.4038
By:
- Segers, Karin;
- Pierquin, Genevieve;
- Gaillez, Stephanie;
- Delbecque, Katty;
- Retz, Maria;
- Tebache, Malek;
- Waterham, Hans;
- Wanders, Ronald;
- Ferdinandusse, Sacha;
- Debray, François‐Guillaume
Publication type:
Article
Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.
Published in:
2017
By:
- Blomqvist, Maria;
- Ahlberg, Karin;
- Lindgren, Julia;
- Ferdinandusse, Sacha;
- Asin-Cayuela, Jorge
Publication type:
journal article
Zellweger spectrum disorders: clinical overview and management approach.
Published in:
2015
By:
- Klouwer, Femke C. C.;
- Berendse, Kevin;
- Ferdinandusse, Sacha;
- Wanders, Ronald J. A.;
- Engelen, Marc;
- Poll-The, Bwee Tien
Publication type:
journal article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W.;
- Burlina, Alberto;
- Ruiter, Jos P. N.;
- Coughlin II, Curtis R.;
- Dishop, Megan K.;
- Gallagher, Renata C.;
- Bedoyan, Jirair K.;
- Vaz, Frédéric M.;
- Waterham, Hans R.;
- Gowan, Katherine;
- Chatfield, Kathryn;
- Bloom, Kaitlyn;
- Bennett, Michael J.;
- Elpeleg, Orly;
- Van Hove, Johan L. K.;
- Wanders, Ronald J. A.
Publication type:
Article
Clinical and biochemical characterization of four patients with mutations in ECHS1
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W.;
- Burlina, Alberto;
- Ruiter, Jos P. N.;
- Coughlin II, Curtis R.;
- Dishop, Megan K.;
- Gallagher, Renata C.;
- Bedoyan, Jirair K.;
- Vaz, Frédéric M.;
- Waterham, Hans R.;
- Gowan, Katherine;
- Chatfield, Kathryn;
- Bloom, Kaitlyn;
- Bennett, Michael J.;
- Elpeleg, Orly;
- Van Hove, Johan L. K.;
- Wanders, Ronald J. A.
Publication type:
Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Published in:
2015
By:
- Ferdinandusse, Sacha;
- Friederich, Marisa W;
- Burlina, Alberto;
- Ruiter, Jos P N;
- Coughlin 2nd, Curtis R;
- Dishop, Megan K;
- Gallagher, Renata C;
- Bedoyan, Jirair K;
- Vaz, Frédéric M;
- Waterham, Hans R;
- Gowan, Katherine;
- Chatfield, Kathryn;
- Bloom, Kaitlyn;
- Bennett, Michael J;
- Elpeleg, Orly;
- Van Hove, Johan L K;
- Wanders, Ronald J A;
- Coughlin, Curtis R 2nd
Publication type:
journal article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98
By:
- Marcadier, Julien L.;
- Smith, Amanda M.;
- Pohl, Daniela;
- Schwartzentruber, Jeremy;
- Al-Dirbashi, Osama Y.;
- Majewski, Jacek;
- Ferdinandusse, Sacha;
- Wanders, Ronald J. A.;
- Bulman, Dennis E.;
- Boycott, Kym M.;
- Chakraborty, Pranesh;
- Geraghty, Michael T.
Publication type:
Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
Published in:
2013
By:
- Marcadier, Julien L;
- Smith, Amanda M;
- Pohl, Daniela;
- Schwartzentruber, Jeremy;
- Al-Dirbashi, Osama Y;
- Majewski, Jacek;
- Ferdinandusse, Sacha;
- Wanders, Ronald Ja;
- Bulman, Dennis E;
- Boycott, Kym M;
- Chakraborty, Pranesh;
- Geraghty, Michael T;
- FORGE Canada Consortium;
- Wanders, Ronald J A
Publication type:
journal article
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Published in:
2013
By:
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Heales, Simon J. R.;
- Brown, Garry K.;
- Hargreaves, Iain P.;
- Taanman, Jan-Willem;
- Gunny, Roxana;
- Abulhoul, Lara;
- Wanders, Ronald J. A.;
- Clayton, Peter T.;
- Leonard, James V.;
- Rahman, Shamima
Publication type:
journal article
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
Published in:
2012
By:
- McMillan, Hugh J;
- Worthylake, Thea;
- Schwartzentruber, Jeremy;
- Gottlieb, Chloe C;
- Lawrence, Sarah E;
- Mackenzie, Alex;
- Beaulieu, Chandree L;
- Mooyer, Petra A W;
- Wanders, Ronald J A;
- Majewski, Jacek;
- Bulman, Dennis E;
- Geraghty, Michael T;
- Ferdinandusse, Sacha;
- Boycott, Kym M;
- FORGE Canada Consortium
Publication type:
journal article
Specific combination of compound heterozygous mutations in 17βhydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 90, doi. 10.1186/1750-1172-7-90
By:
- McMillan, Hugh J.;
- Worthylake, Thea;
- Schwartzentruber, Jeremy;
- Gottlieb, Chloe C.;
- Lawrence, Sarah E.;
- MacKenzie, Alex;
- Beaulieu, Chandree L.;
- W. Mooyer, Petra A.;
- A. Wanders, Ronald J.;
- Majewski, Jacek;
- Bulman, Dennis E.;
- Geraghty, Michael T.;
- Ferdinandusse, Sacha;
- Boycott, Kym M.
Publication type:
Article
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
Published in:
2011
By:
- Sevin, Caroline;
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Wanders, Ronald J.;
- Aubourg, Patrick
Publication type:
Case Study
Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.
Published in:
Journal of Neurology, 2016, v. 263, n. 8, p. 1552, doi. 10.1007/s00415-016-8167-3
By:
- Renaud, Mathilde;
- Guissart, Claire;
- Mallaret, Martial;
- Ferdinandusse, Sacha;
- Cheillan, David;
- Drouot, Nathalie;
- Muller, Jean;
- Claustres, Mireille;
- Tranchant, Christine;
- Anheim, Mathieu;
- Koenig, Michel
Publication type:
Article
Sex‐specific newborn screening for X‐linked adrenoleukodystrophy.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 116, doi. 10.1002/jimd.12571
By:
- Albersen, Monique;
- van der Beek, Samantha L.;
- Dijkstra, Inge M. E.;
- Alders, Mariëlle;
- Barendsen, Rinse W.;
- Bliek, Jet;
- Boelen, Anita;
- Ebberink, Merel S.;
- Ferdinandusse, Sacha;
- Goorden, Susan M. I.;
- Heijboer, Annemieke C.;
- Jansen, Mandy;
- Jaspers, Yorrick R. J.;
- Metgod, Ingrid;
- Salomons, Gajja S.;
- Vaz, Frédéric M.;
- Verschoof‐Puite, Rendelien K.;
- Visser, Wouter F.;
- Dekkers, Eugènie;
- Engelen, Marc
Publication type:
Article
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 6, p. 1094, doi. 10.1002/jimd.12548
By:
- Hermans, Merel E.;
- van Weeghel, Michel;
- Vaz, Frédéric M.;
- Ferdinandusse, Sacha;
- Hollak, Carla E. M.;
- Huidekoper, Hidde H.;
- Janssen, Mirian C. H.;
- van Kuilenburg, André B. P.;
- Pras‐Raves, Mia L.;
- Wamelink, Mirjam M. C.;
- Wanders, Ronald J. A.;
- Welsink‐Karssies, Mendy M.;
- Bosch, Annet M.
Publication type:
Article
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 819, doi. 10.1002/jimd.12503
By:
- Schwantje, Marit;
- Ebberink, Merel S.;
- Doolaard, Mirjam;
- Ruiter, Jos P. N.;
- Fuchs, Sabine A.;
- Darin, Niklas;
- Hedberg‐Oldfors, Carola;
- Régal, Luc;
- Donker Kaat, Laura;
- Huidekoper, Hidde H.;
- Olpin, Simon;
- Cole, Duncan;
- Moat, Stuart J.;
- Visser, Gepke;
- Ferdinandusse, Sacha
Publication type:
Article
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 804, doi. 10.1002/jimd.12502
By:
- Schwantje, Marit;
- Fuchs, Sabine A.;
- de Boer, Lonneke;
- Bosch, Annet M.;
- Cuppen, Inge;
- Dekkers, Eugenie;
- Derks, Terry G. J.;
- Ferdinandusse, Sacha;
- Ijlst, Lodewijk;
- Houtkooper, Riekelt H.;
- Maase, Rose;
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3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.
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Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 445, doi. 10.1002/jimd.12486
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- Ferdinandusse, Sacha;
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- Sparkes, Rebecca;
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- Al‐Hertani, Walla
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Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 386, doi. 10.1002/jimd.12475
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- Crefcoeur, Loek L.;
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- Langeveld, Mirjam;
- Sjouke, Barbara
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Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome.
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Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1265, doi. 10.1002/jimd.12275
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- Staps, Pippa;
- Rizzo, William B.;
- Vaz, Frédéric M.;
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- Heijs, Bram;
- Kampen, Antoine H. C.;
- Pras‐Raves, Mia L.;
- Breur, Marjolein;
- Groen, Annemieke;
- Ferdinandusse, Sacha;
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- Willemsen, Michèl A. A. P.
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Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 969, doi. 10.1002/jimd.12266
By:
- Knottnerus, Suzan J. G.;
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- Visser, Gepke;
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- Bakermans, Adrianus J.
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Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 787, doi. 10.1002/jimd.12217
By:
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- IJlst, Lodewijk;
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- Pol, W. Ludo;
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- Cox, Pete J.;
- Jeneson, Jeroen A. L.
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The 1‐<sup>13</sup>C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 507, doi. 10.1002/jimd.12207
By:
- Welsink‐Karssies, Mendy M.;
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- Vries, Maaike C.;
- Wijburg, Frits A.;
- Schierbeek, Henk;
- Bosch, Annet M.
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Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 878, doi. 10.1002/jimd.12147
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- Visser, Gepke;
- Williams, Monique;
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- Derks, Terry G. J.
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Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 414, doi. 10.1002/jimd.12075
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- Kok, Irene L.;
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- Cuppen, Inge;
- Bosch, Annet M.;
- Langeveld, Mirjam;
- Derks, Terry G. J.;
- Williams, Monique;
- de Vries, Maaike;
- Mulder, Margot F.;
- Gozalbo, Estela R.;
- de Sain‐van der Velden, Monique G. M.;
- Rennings, Alexander J.;
- Schielen, Peter J. C. I.;
- Dekkers, Eugenie;
- Houtkooper, Riekelt H.;
- Waterham, Hans R.;
- Pras‐Raves, Mia L.;
- Wanders, Ronald J. A.
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The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 303, doi. 10.1002/jimd.12042
By:
- Klouwer, Femke C. C.;
- Koot, Bart G. P.;
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- Kemper, Elles M.;
- Ferdinandusse, Sacha;
- Koelfat, Kiran V. K.;
- Lenicek, Martin;
- Vaz, Frédéric M.;
- Engelen, Marc;
- Jansen, Peter L. M.;
- Wanders, Ronald J. A.;
- Waterham, Hans R.;
- Schaap, Frank G.;
- Poll‐The, Bwee Tien
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Article