Works matching AU Ruiter, Jos P N

Results: 13

Identification and characterization of Eci3, a murine kidney-specific Δ³, Δ²-enoyl-CoA isomerase.

Published in:

FASEB Journal, 2014, v. 28, n. 3, p. 1365, doi. 10.1096/fj.13-240416

By:

van Weeghel, Michel;
Ofman, Rob;
Argmann, Carmen A.;
Ruiter, Jos P. N.;
Claessen, Nike;
Oussoren, Saskia V.;
Wanders, Ronald J. A.;
Aten, Jan;
Houten, Sander M.

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

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Published in:

2019

By:

Vaz, Frédéric M;
McDermott, John H;
Alders, Mariëlle;
Wortmann, Saskia B;
Kölker, Stefan;
Pras-Raves, Mia L;
Vervaart, Martin A T;
Lenthe, Henk van;
Luyf, Angela C M;
Elfrink, Hyung L;
Metcalfe, Kay;
Cuvertino, Sara;
Clayton, Peter E;
Yarwood, Rebecca;
Lowe, Martin P;
Lovell, Simon;
Rogers, Richard C;
Study, Deciphering Developmental Disorders;
Kampen, Antoine H C van;
Ruiter, Jos P N

Publication type:

journal article

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Published in:

Human Genetics, 2006, v. 118, n. 6, p. 680, doi. 10.1007/s00439-005-0070-4

By:

Madsen, Pia Pinholt;
Kibæk, Maria;
Roca, Xavier;
Sachidanandam, Ravi;
Krainer, Adrian R.;
Christensen, Ernst;
Steiner, Robert D.;
Gibson, K. Michael;
Corydon, Thomas J.;
Knudsen, Inga;
Wanders, Ronald J. A.;
Ruiter, Jos P. N.;
Gregersen, Niels;
Andresen, Brage Storstein

Publication type:

Article

Molecular and functional characterisation of mild MCAD deficiency.

Published in:

Human Genetics, 2001, v. 108, n. 5, p. 404, doi. 10.1007/s004390100501

By:

Zschocke, Johannes;
Schulze, Andreas;
Lindner, Martin;
Fiesel, Sonja;
Olgemöller, Katharina;
Hoffmann, Georg F.;
Penzien, Johannes;
Ruiter, Jos P. N.;
Wanders, Ronald J. A.;
Mayatepek, Ertan

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. 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

Genetic basis of hyperlysinemia.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-57

By:

Houten, Sander M.;
Brinke, Heleen te;
Denis, Simone;
Ruiter, Jos P. N.;
Knegt, Alida C.;
de Klerk, Johannis B. C.;
Augoustides-Savvopoulou, Persephone;
Häberle, Johannes;
Baumgartner, Matthias R.;
Coskun, Turgay;
Zschocke, Johannes;
Sass, Jörn Oliver;
Poll-The, Bwee Tien;
Wanders, Ronald J. A.;
Duran, Marinus

Publication type:

Article

Clinical variability in 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency.

Published in:

Annals of Neurology, 2002, v. 51, n. 5, p. 656, doi. 10.1002/ana.10169

By:

Ensenauer, Regina;
Niederhoff, Helmut;
Ruiter, Jos P. N.;
Wanders, Ronald J. A.;
Schwab, K. Otfried;
Brandis, Matthias;
Lehnert, Willy

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

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;
Wanders, Ronald J. A.;
Al‐Hertani, Walla

Publication type:

Article

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

By:

Rijt, Willemijn J.;
Ferdinandusse, Sacha;
Giannopoulos, Panagiotis;
Ruiter, Jos P. N.;
Boer, Lonneke;
Bosch, Annet M.;
Huidekoper, Hidde H.;
Rubio‐Gozalbo, M. Estela;
Visser, Gepke;
Williams, Monique;
Wanders, Ronald J. A.;
Derks, Terry G. J.

Publication type:

Article