Works by Ferdinandusse, Sacha

Results: 72

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

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

Genome sequencing in persistently unsolved white matter disorders.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 144, doi. 10.1002/acn3.50957

By:

Helman, 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.

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

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

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.

Published in:

2018

By:

van Weeghel, Michel;
Welling, Lindsey;
Treacy, Eileen P.;
Wanders, Ronald J. A.;
Ferdinandusse, Sacha;
Bosch, Annet M.

Publication type:

journal 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

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Published in:

2016

By:

Schottmann, Gudrun;
Sarpong, Akosua;
Lorenz, Carmen;
Weinhold, Natalie;
Gill, Esther;
Teschner, Lisa;
Ferdinandusse, Sacha;
Wanders, Ronald J. A.;
Prigione, Alessandro;
Schuelke, Markus

Publication type:

journal article

Mild phenotype in an adult male with X-linked adrenoleukodystrophy - case report.

Published in:

Clinical Case Reports, 2016, v. 4, n. 2, p. 177, doi. 10.1002/ccr3.434

By:

Horn, Morten A.;
Mikaelsen, Karin B. M.;
Ferdinandusse, Sacha;
Jørum, Ellen;
Mellgren, Svein I.;
Retterstøl, Lars;
Wanders, Ronald J. A.;
Tallaksen, Chantal M. E.

Publication type:

Article

The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093852

By:

Jank, Johanna M.;
Maier, Esther M.;
Reiβ, Dunja D.;
Haslbeck, Martin;
Kemter, Kristina F.;
Truger, Marietta S.;
Sommerhoff, Christian P.;
Ferdinandusse, Sacha;
Wanders, Ronald J.;
Gersting, Søren W.;
Muntau, Ania C.

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

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

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

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5845, doi. 10.1093/hmg/ddv305

By:

Barøy, Tuva;
Koster, Janet;
Strømme, Petter;
Ebberink, Merel S.;
Misceo, Doriana;
Ferdinandusse, Sacha;
Holmgren, Asbjørn;
Hughes, Timothy;
Merckoll, Else;
Westvik, Jostein;
Woldseth, Berit;
Walter, John;
Wood, Nick;
Tvedt, Bjørn;
Stadskleiv, Kristine;
Wanders, Ronald J. A.;
Waterham, Hans R.;
Frengen, Eirik

Publication type:

Article

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 2, p. 361, doi. 10.1093/hmg/ddu448

By:

Ferdinandusse, Sacha;
Jimenez-Sanchez, Gerardo;
Koster, Janet;
Denis, Simone;
Van Roermund, Carlo W.;
Silva-Zolezzi, Irma;
Moser, Ann B.;
Visser, Wouter F.;
Gulluoglu, Mine;
Durmaz, Ozlem;
Demirkol, Mubeccel;
Waterham, Hans R.;
Gökcay, Gülden;
Wanders, Ronald J. A.;
Valle, David

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

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 211, doi. 10.1002/ajmg.a.36803

By:

Scalais, Emmanuel;
Bottu, Jean;
Wanders, Ronald J. A.;
Ferdinandusse, Sacha;
Waterham, Hans R.;
De Meirleir, Linda

Publication type:

Article

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

Published in:

2014

By:

Peters, Heidi;
Buck, Nicole;
Wanders, Ronald;
Ruiter, Jos;
Waterham, Hans;
Koster, Janet;
Yaplito-Lee, Joy;
Ferdinandusse, Sacha;
Pitt, James

Publication type:

Journal 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

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

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

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

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12842

By:

Balfoort, Berith M.;
Van den Broeck, Filip;
Boon, Camiel J. F.;
Brouwers, Martijn C. G. J.;
Diederen, Roselie M. H.;
Dhillon, Preet;
Ten Asbroek, Anneloor L.M.A.;
Bergen, Arthur A.;
Boon, Camiel J.F.;
Brands, Marion M.;
Buijs, Mark J.N.;
Diederen, Roselie M.H.;
Ferdinandusse, Sacha;
Houtkooper, Riekelt H.;
Van Karnebeek, Clara D. M.;
Schultink, Patrick;
Timmer, Corrie;
Vaz, Frédéric M.;
Wagenmakers, Margreet A.E.M.;
Wanders, Ronald J.A.

Publication type:

Article

Disorders of fatty acid homeostasis.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12734

By:

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

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;
van der Pol, W. Ludo;
de Vries, Maaike C.;
Verschoof‐Puite, Rendelien K.;
Wanders, Ronald J. A.;
Williams, Monique;
Wijburg, Frits;
Visser, Gepke

Publication type:

Article

3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 445, doi. 10.1002/jimd.12486

By:

Sasarman, Florin;
Ferdinandusse, Sacha;
Sinasac, David S.;
Fung, Ernest;
Sparkes, Rebecca;
Reeves, Melanie;
Rombough, Catherine;
Sass, Jörn Oliver;
Voit, Renate;
Ruiter, Jos P. N.;
Koster, Janet;
Waterham, Hans R.;
Pasquini, Elisabetta;
Donati, Maria A.;
Marquardt, Thorsten;
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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.

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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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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;
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Vaz, Frédéric M.;
Bugiani, Marianna;
Giera, Martin;
Heijs, Bram;
Kampen, Antoine H. C.;
Pras‐Raves, Mia L.;
Breur, Marjolein;
Groen, Annemieke;
Ferdinandusse, Sacha;
Graaf, Marinette;
Van Goethem, Gert;
Lammens, Martin;
Wevers, Ron A.;
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.

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Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 969, doi. 10.1002/jimd.12266

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Knottnerus, Suzan J. G.;
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Houtkooper, Riekelt H.;
Langeveld, Mirjam;
Nederveen, Aart J.;
Strijkers, Gustav J.;
Visser, Gepke;
Wanders, Ronald J. A.;
Wijburg, Frits A.;
Boekholdt, S. Matthijs;
Bakermans, Adrianus J.

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Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency.

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Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 787, doi. 10.1002/jimd.12217

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Bleeker, Jeannette C.;
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Clarke, Kieran;
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Haan, Ferdinand H.;
Houtkooper, Riekelt H.;
IJlst, Lodewijk;
Kok, Irene L.;
Langeveld, Mirjam;
Pol, W. Ludo;
Sain‐van der Velden, Monique G. M.;
Sibeijn‐Kuiper, Anita;
Takken, Tim;
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Weeghel, Michel;
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Wüst, Rob C. I.;
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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.

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Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 507, doi. 10.1002/jimd.12207

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Welsink‐Karssies, Mendy M.;
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Hollak, Carla E. M.;
Huidekoper, Hidde H.;
Janssen, Mirian C. H.;
Kemper, E. Marleen;
Langendonk, Janneke G.;
Rubio‐Gozalbo, M. Estela;
Vries, Maaike C.;
Wijburg, Frits A.;
Schierbeek, Henk;
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Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.

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Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 878, doi. 10.1002/jimd.12147

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Rijt, Willemijn J.;
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Boer, Lonneke;
Bosch, Annet M.;
Huidekoper, Hidde H.;
Rubio‐Gozalbo, M. Estela;
Visser, Gepke;
Williams, Monique;
Wanders, Ronald J. A.;
Derks, Terry G. J.

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