Works matching AU Kemp, Stephan

Results: 58

The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy.

Published in:

Human Mutation, 2006, v. 27, n. 10, p. 1063, doi. 10.1002/humu.9459

By:

Linnebank, Michael;
Semmler, Alexander;
Kleijer, Wim J.;
van der Sterre, Marianne L.T.;
Gärtner, Jutta;
Fliessbach, Klaus;
Sokolowski, Piotr;
Köhler, Wolfgang;
Schlegel, Uwe;
Klockgether, Thomas;
Wanders, Ronald J.A.;
Schmidt, Stephan;
Wüllner, Ullrich;
Kemp, Stephan

Publication type:

Article

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations.

Published in:

Human Mutation, 2001, v. 18, n. 6, p. 499, doi. 10.1002/humu.1227

By:

Kemp, Stephan;
Pujol, Aurora;
Waterham, Hans R.;
van Geel, Björn M.;
Boehm, Corinne D.;
Raymond, Gerald V.;
Cutting, Garry R.;
Wanders, Ronald J.A.;
Moser, Hugo W.

Publication type:

Article

Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 51, doi. 10.3390/ijns9030051

By:

Yska, Hemmo A. F.;
Henneman, Lidewij;
Barendsen, Rinse W.;
Engelen, Marc;
Kemp, Stephan

Publication type:

Article

Targeting foam cell formation in inflammatory brain diseases by the histone modifier MS‐275.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2161, doi. 10.1002/acn3.51200

By:

Zierfuss, Bettina;
Weinhofer, Isabelle;
Buda, Agnieszka;
Popitsch, Niko;
Hess, Lena;
Moos, Verena;
Hametner, Simon;
Kemp, Stephan;
Köhler, Wolfgang;
Forss‐Petter, Sonja;
Seiser, Christian;
Berger, Johannes

Publication type:

Article

Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2127, doi. 10.1002/acn3.51188

By:

Ballegoij, Wouter J. C.;
Stadt, Stephanie I.W.;
Huffnagel, Irene C.;
Kemp, Stephan;
Willemse, Eline A. J.;
Teunissen, Charlotte E.;
Engelen, Marc

Publication type:

Article

Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 639, doi. 10.1002/acn3.51015

By:

Zierfuss, Bettina;
Weinhofer, Isabelle;
Kühl, Jörn‐Sven;
Köhler, Wolfgang;
Bley, Annette;
Zauner, Katharina;
Binder, Johannes;
Martinović, Ksenija;
Seiser, Christian;
Hertzberg, Christoph;
Kemp, Stephan;
Egger, Gerda;
Leitner, Gerda;
Bauer, Jan;
Wiesinger, Christoph;
Kunze, Markus;
Forss‐Petter, Sonja;
Berger, Johannes

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

Disease progression in women with X-linked adrenoleukodystrophy is slow.

Published in:

2019

By:

Huffnagel, Irene C.;
Dijkgraaf, Marcel G. W.;
Janssens, Georges E.;
van Weeghel, Michel;
van Geel, Björn M.;
Poll-The, Bwee Tien;
Kemp, Stephan;
Engelen, Marc

Publication type:

journal article

Biochemical Aspects of X-Linked Adrenoleukodystrophy.

Published in:

Brain Pathology, 2010, v. 20, n. 4, p. 831, doi. 10.1111/j.1750-3639.2010.00391.x

By:

Kemp, Stephan;
Wanders, Ronald

Publication type:

Article

Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy.

Published in:

Nature Medicine, 1998, v. 4, n. 11, p. 1261, doi. 10.1038/3242

By:

Kemp, Stephan;
Wei, He-Ming;
Lu, Jyh-Feng;
Braiterman, Lelita T;
McGuinness, Martina C.;
Moser, Ann B.;
Watkins, Paul A.;
Smith, Kirby D.

Publication type:

Article

The peroxisomal ABC transporter family.

Published in:

Pflügers Archiv: European Journal of Physiology, 2007, v. 453, n. 5, p. 719, doi. 10.1007/s00424-006-0142-x

By:

Wanders, Ronald J. A.;
Visser, Wouter F.;
van Roermund, Carlo W. T.;
Kemp, Stephan;
Waterham, Hans R.

Publication type:

Article

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.

Published in:

2011

By:

Engelen, Marc;
van der Kooi, Anneke J.;
Kemp, Stephan;
Wanders, Ronald J. A.;
Sistermans, Erik A.;
Waterham, Hans R.;
Koelman, Johannes T. M.;
van Geel, Björn M.;
de Visser, Marianne

Publication type:

Letter

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients.

Published in:

PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052635

By:

Amorosi, Cyntia Anabel;
Myskóva, Helena;
Monti, Mariela Roxana;
Argaraña, Carlos Enrique;
Morita, Masashi;
Kemp, Stephan;
de Kremer, Raquel Dodelson;
Dvoráková, Lenka;
de Ramírez, Ana María Oller

Publication type:

Article

Bezafibrate for X-Linked Adrenoleukodystrophy.

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041013

By:

Engelen, Marc;
Tran, Luc;
Ofman, Rob;
Brennecke, Josephine;
Moser, Ann B.;
Dijkstra, Inge M. E.;
Wanders, Ronald J. A.;
Poll-The, Bwee Tien;
Kemp, Stephan

Publication type:

Article

Characterization of the human ω-oxidation pathway for ω-hydroxy-very-long-chain fatty acids.

Published in:

FASEB Journal, 2008, v. 22, n. 6, p. 2064, doi. 10.1096/fj.07-099150

By:

Sanders, Robert-Jan;
Ofman, Rob;
Dacremont, Georges;
Wanders, Ronald J. A.;
Kemp, Stephan

Publication type:

Article

Peroxisomes: new insights into protein sorting, dynamics, quality control, signalling and roles in health and disease.

Published in:

Histochemistry & Cell Biology, 2019, v. 151, n. 4, p. 283, doi. 10.1007/s00418-019-01780-w

By:

Costello, Joseph L.;
Zalckvar, Einat;
Kemp, Stephan;
di Cara, Francesca;
Kim, Peter K.;
Linka, Nicole;
van der Klei, Ida J.

Publication type:

Article

Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.

Published in:

2011

By:

Kemp, Stephan;
Theodoulou, Frederica L;
Wanders, Ronald JA;
Wanders, Ronald J A

Publication type:

journal article

The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy.

Published in:

Science Translational Medicine, 2021, v. 13, n. 596, p. 1, doi. 10.1126/scitranslmed.abc0555

By:

Rodríguez-Pascau, Laura;
Vilalta, Anna;
Cerrada, Marc;
Traver, Estefania;
Forss-Petter, Sonja;
Weinhofer, Isabelle;
Bauer, Jan;
Kemp, Stephan;
Pina, Guillem;
Pascual, Sílvia;
Meya, Uwe;
Musolino, Patricia L.;
Berger, Johannes;
Martinell, Marc;
Pizcueta, Pilar

Publication type:

Article

Intellectual Disability and Hemizygous GPD 2 Mutation.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1044, doi. 10.1002/ajmg.a.35873

By:

Barge‐Schaapveld, Daniela Q.C.M.;
Ofman, Rob;
Knegt, Alida C.;
Alders, Mariëlle;
Höhne, Wolfgang;
Kemp, Stephan;
Hennekam, Raoul C.M.

Publication type:

Article

X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment.

Published in:

Current Neurology & Neuroscience Reports, 2014, v. 14, n. 10, p. 1, doi. 10.1007/s11910-014-0486-0

By:

Engelen, Marc;
Kemp, Stephan;
Poll-The, Bwee-Tien

Publication type:

Article

Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness.

Published in:

2019

By:

Huffnagel, Irene C;
Ballegoij, Wouter J C van;
Geel, Björn M van;
Vos, Johanna M B W;
Kemp, Stephan;
Engelen, Marc;
van Ballegoij, Wouter J C;
van Geel, Björn M

Publication type:

journal article

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. e326, doi. 10.1093/brain/awu233

By:

Engelen, Marc;
Barbier, Mathieu;
Dijkstra, Inge M. E.;
Schür, Remmelt;
de Bie, Rob M.;
Verhamme, Camiel;
Dijkgraaf, Marcel G. W.;
Aubourg, Patrick A.;
Wanders, Ronald J. A.;
van Geel, Bjorn M.;
de Visser, Marianne;
Poll–The, Bwee T.;
Kemp, Stephan

Publication type:

Article

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 3, p. 693, doi. 10.1093/brain/awt361

By:

Engelen, Marc;
Barbier, Mathieu;
Dijkstra, Inge M. E.;
Schür, Remmelt;
de Bie, Rob M. A.;
Verhamme, Camiel;
Dijkgraaf, Marcel G. W.;
Aubourg, Patrick A.;
Wanders, Ronald J. A.;
van Geel, Bjorn M.;
de Visser, Marianne;
Poll–The, Bwee T.;
Kemp, Stephan

Publication type:

Article

Saturated very long-chain fatty acids regulate macrophage plasticity and invasiveness.

Published in:

Journal of Neuroinflammation, 2022, v. 19, n. 1, p. 1, doi. 10.1186/s12974-022-02664-y

By:

Zierfuss, Bettina;
Buda, Agnieszka;
Villoria-González, Andrea;
Logist, Maxime;
Fabjan, Jure;
Parzer, Patricia;
Battin, Claire;
Vandersteene, Streggi;
Dijkstra, Inge M. E.;
Waidhofer-Söllner, Petra;
Grabmeier-Pfistershammer, Katharina;
Steinberger, Peter;
Kemp, Stephan;
Forss-Petter, Sonja;
Berger, Johannes;
Weinhofer, Isabelle

Publication type:

Article

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy.

Published in:

Frontiers in Physiology, 2020, v. 11, p. 1, doi. 10.3389/fphys.2020.00786

By:

van Ballegoij, Wouter J. C.;
van de Stadt, Stephanie I. W.;
Huffnagel, Irene C.;
Kemp, Stephan;
van der Knaap, Marjo S.;
Engelen, Marc

Publication type:

Article

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Published in:

2012

By:

Engelen, Marc;
Kemp, Stephan;
de Visser, Marianne;
van Geel, Björn M;
Wanders, Ronald Ja;
Aubourg, Patrick;
Poll-The, Bwee Tien;
Wanders, Ronald J A

Publication type:

journal article

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Published in:

Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 51, doi. 10.1186/1750-1172-7-51

By:

Engelen, Marc;
Kemp, Stephan;
de Visser, Marianne;
van Geel, Björn M;
Wanders, Ronald JA;
Aubourg, Patrick;
Poll-The, Bwee Tien

Publication type:

Article

Pharmacological induction of peroxisomes in peroxisome biogenesis disorders.

Published in:

Annals of Neurology, 2000, v. 47, n. 3, p. 286, doi. 10.1002/1531-8249(200003)47:3<286::AID-ANA3>3.0.CO;2-B

By:

Wei, Heming;
Kemp, Stephan;
McGuinness, Martina C.;
Moser, Ann B.;
Smith, Kirby D.

Publication type:

Article

Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy.

Published in:

1999

By:

Steinberg, Steven J.;
Kemp, Stephan;
Braiterman, Lelita T.;
Watkins, Paul A.;
Steinberg, S J;
Kemp, S;
Braiterman, L T;
Watkins, P A

Publication type:

journal article

Altered lipid profile and reduced neuronal support in human induced pluripotent stem cell‐derived astrocytes from adrenoleukodystrophy patients.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12832

By:

Ferrer, Roberto Montoro;
Jaspers, Yorrick R. J.;
Dijkstra, Inge M. E.;
Breeuwsma, Nicole;
van Klinken, Jan‐Bert;
Romero, Cato;
Engelen, Marc;
Kemp, Stephan;
Heine, Vivi M.

Publication type:

Article

Evolution of adrenoleukodystrophy model systems.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 544, doi. 10.1002/jimd.12357

By:

Montoro, Roberto;
Heine, Vivi M.;
Kemp, Stephan;
Engelen, Marc

Publication type:

Article

Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 852, doi. 10.1002/jimd.12226

By:

Stadt, Stephanie I. W.;
Ballegoij, Wouter J. C.;
Labounek, René;
Huffnagel, Irene C.;
Kemp, Stephan;
Nestrasil, Igor;
Engelen, Marc

Publication type:

Article

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 197, doi. 10.1002/jimd.12008

By:

Wanders, Ronald J. A.;
Vaz, Frederic M.;
Ferdinandusse, Sacha;
van Kuilenburg, André B. P.;
Kemp, Stephan;
van Karnebeek, Clara D.;
Waterham, Hans R.;
Houtkooper, Riekelt H.

Publication type:

Article

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 2, p. 359, doi. 10.1007/s10545-014-9797-1

By:

Geel, Björn;
Poll-The, Bwee Tien;
Verrips, Aad;
Boelens, Jaap-Jan;
Kemp, Stephan;
Engelen, Marc

Publication type:

Article

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1137, doi. 10.1007/s10545-012-9471-4

By:

Engelen, Marc;
Schackmann, Martin;
Ofman, Rob;
Sanders, Robert-Jan;
Dijkstra, Inge;
Houten, Sander;
Fourcade, Stéphane;
Pujol, Aurora;
Poll-The, Bwee;
Wanders, Ronald;
Kemp, Stephan

Publication type:

Article

Newborn Screening for Adrenoleukodystrophy.

Published in:

2025

By:

Engelen, Marc;
Kemp, Stephan

Publication type:

Opinion

ABCD1 Transporter Deficiency Results in Altered Cholesterol Homeostasis.

Published in:

Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1333, doi. 10.3390/biom13091333

By:

Buda, Agnieszka;
Forss-Petter, Sonja;
Hua, Rong;
Jaspers, Yorrick;
Lassnig, Mark;
Waidhofer-Söllner, Petra;
Kemp, Stephan;
Kim, Peter;
Weinhofer, Isabelle;
Berger, Johannes

Publication type:

Article

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 10, p. 2005, doi. 10.1093/hmg/ddq082

By:

Fourcade, Stéphane;
Ruiz, Montserrat;
Guilera, Cristina;
Hahnen, Eric;
Brichta, Lars;
Naudi, Alba;
Portero-Otín, Manuel;
Dacremont, Georges;
Cartier, Nathalie;
Wanders, Ronald;
Kemp, Stephan;
Mandel, Jean Louis;
Wirth, Brunhilde;
Pamplona, Reinald;
Aubourg, Patrick;
Pujol, Aurora

Publication type:

Article

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3365, doi. 10.1093/hmg/ddp276

By:

Janssen, Rolf J.R.J.;
Distelmaier, Felix;
Smeets, Roel;
Wijnhoven, Tessa;
Østergaard, Elsebet;
Jaspers, Nicolaas G.J.;
Raams, Anja;
Kemp, Stephan;
Rodenburg, Richard J.T.;
Willems, Peter H.M.G.;
van den Heuvel, Lambert P.W.J.;
Smeitink, Jan A.M.;
Nijtmans, Leo G.J.

Publication type:

Article

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 12, p. 1762, doi. 10.1093/hmg/ddn085

By:

Fourcade, Stéphane;
López-Erauskin, Jone;
Galino, Jorge;
Duval, Carine;
Naudi, Alba;
Jove, Mariona;
Kemp, Stephan;
Villarroya, Francesc;
Ferrer, Isidre;
Pamplona, Reinald;
Portero-Otin, Manuel;
Pujol, Aurora

Publication type:

Article

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 23, p. 3565, doi. 10.1093/hmg/ddi384

By:

Ferrer, Isidre;
Kapfhammer, Josef P.;
Hindelang, Colette;
Kemp, Stephan;
Troffer-Charlier, Nathalie;
Broccoli, Vania;
Callyzot, Noëlle;
Mooyer, Petra;
Selhorst, Jacqueline;
Vreken, Peter;
Wanders, Ronald J.A.;
Mandel, Jean Louis;
Pujol, Aurora

Publication type:

Article

Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 9, p. 1127, doi. 10.1093/hmg/ddi125

By:

Oezen, Iris;
Rossmanith, Walter;
Forss-Petter, Sonja;
Kemp, Stephan;
Voigtländer, Till;
Moser-Thier, Karin;
Wanders, Ronald J.;
Bittner, Reginald E.;
Berger, Johannes

Publication type:

Article

A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 10, p. 1145, doi. 10.1093/hmg/ddg126

By:

Heinzer, Ann K.;
Watkins, Paul A.;
Lu, Jyh-Feng;
Kemp, Stephan;
Moser, Ann B.;
Li, Yuan Yuan;
Mihalik, Stephanie;
Powers, James M.;
Smith, Kirby D.

Publication type:

Article

Clinical utility gene card for: Adrenoleukodystrophy.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 3, p. -1, doi. 10.1038/ejhg.2011.193

By:

Krasemann, Ernst;
Kemp, Stephan;
Gal, Andreas

Publication type:

Article

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.

Published in:

Expert Opinion on Biological Therapy, 2022, v. 22, n. 9, p. 1151, doi. 10.1080/14712598.2022.2124857

By:

Gupta, Ashish O;
Raymond, Gerald;
Pierpont, Elizabeth I;
Kemp, Stephan;
McIvor, R Scott;
Rayannavar, Arpana;
Miller, Bradley;
Lund, Troy C;
Orchard, Paul J

Publication type:

Article

Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.

Published in:

2021

By:

Raas, Quentin;
van de Beek, Malu-Clair;
Forss-Petter, Sonja;
Dijkstra, Inge M. E.;
Deschiffart, Abigail;
Freshner, Briana C.;
Stevenson, Tamara J.;
Jaspers, Yorrick R. J.;
Nagtzaam, Liselotte;
Wanders, Ronald J. A.;
van Weeghel, Michel;
Joo-Yeon Engelen-Lee;
Engelen, Marc;
Eichler, Florian;
Berger, Johannes;
Bonkowsky, Joshua L.;
Kemp, Stephan;
Dijkstra, Inge Me;
Jaspers, Yorrick Rj;
Nagtzaam, Liselotte M

Publication type:

journal article

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy.

Published in:

EMBO Molecular Medicine, 2010, v. 2, n. 3, p. 90, doi. 10.1002/emmm.201000061

By:

Ofman, Rob;
Dijkstra, Inge M. E.;
van Roermund, Carlo W. T.;
Burger, Nena;
Turkenburg, Marjolein;
van Cruchten, Arno;
van Engen, Catherine E.;
Wanders, Ronald J. A.;
Kemp, Stephan

Publication type:

Article

Stearoyl-CoA desaturase-1: a potential therapeutic target for neurological disorders.

Published in:

Molecular Neurodegeneration, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13024-024-00778-w

By:

Loix, Melanie;
Vanherle, Sam;
Turri, Marta;
Kemp, Stephan;
Fernandes, Karl J. L.;
Hendriks, Jerome J. A.;
Bogie, Jeroen F. J.

Publication type:

Article

Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03867-y

By:

Weinhofer, Isabelle;
Buda, Agnieszka;
Kunze, Markus;
Palfi, Zsofia;
Traunfellner, Matthäus;
Hesse, Sarah;
Villoria-Gonzalez, Andrea;
Hofmann, Jörg;
Hametner, Simon;
Regelsberger, Günther;
Moser, Ann B.;
Eichler, Florian;
Kemp, Stephan;
Bauer, Jan;
Kühl, Jörn-Sven;
Forss-Petter, Sonja;
Berger, Johannes

Publication type:

Article

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0154597

By:

van de Beek, Malu-Clair;
Dijkstra, Inge M. E.;
van Lenthe, Henk;
Ofman, Rob;
Goldhaber-Pasillas, Dalia;
Schauer, Nicolas;
Schackmann, Martin;
Engelen-Lee, Joo-Yeon;
Vaz, Frédéric M.;
Kulik, Wim;
Wanders, Ronald J. A.;
Engelen, Marc;
Kemp, Stephan

Publication type:

Article