Results
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61.
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Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. [electronic resource] by
- Ferri, Lorenzo
- Donati, Maria A
- Funghini, Silvia
- Cavicchi, Catia
- Pensato, Viviana
- Gellera, Cinzia
- Natacci, Federica
- Spaccini, Luigina
- Gasperini, Serena
- Vaz, Frédéric M
- Cooper, David N
- Guerrini, Renzo
- Morrone, Amelia
Producer: 20160824
In:
European journal of human genetics : EJHG vol. 23
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62.
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Lipidomics unveils lipid dyshomeostasis and low circulating plasmalogens as biomarkers in a monogenic mitochondrial disorder. [electronic resource] by
- Ruiz, Matthieu
- Cuillerier, Alexanne
- Daneault, Caroline
- Deschênes, Sonia
- Frayne, Isabelle Robillard
- Bouchard, Bertrand
- Forest, Anik
- Legault, Julie Thompson
- Vaz, Frederic M
- Rioux, John D
- Burelle, Yan
- Des Rosiers, Christine
Producer: 20200821
In:
JCI insight vol. 4
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63.
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Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis. [electronic resource] by
- Baban, Anwar
- Adorisio, Rachele
- Corica, Bernadette
- Rizzo, Cristiano
- Calì, Federica
- Semeraro, Michela
- Taurisano, Roberta
- Magliozzi, Monia
- Carrozzo, Rosalba
- Parisi, Francesco
- Dallapiccola, Bruno
- Vaz, Frédéric M
- Drago, Fabrizio
- Dionisi-Vici, Carlo
Producer: 20201228
In:
American journal of medical genetics. Part A vol. 182
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64.
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Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. [electronic resource] by
- Valianpour, Fredoen
- Mitsakos, Voula
- Schlemmer, Dimitri
- Towbin, Jeffrey A
- Taylor, Juliet M
- Ekert, Paul G
- Thorburn, David R
- Munnich, Arnold
- Wanders, Ronald J A
- Barth, Peter G
- Vaz, Frédéric M
Producer: 20050922
In:
Journal of lipid research vol. 46
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65.
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Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. [electronic resource] by
- Zeharia, Avraham
- Shaag, Avraham
- Houtkooper, Riekelt H
- Hindi, Tareq
- de Lonlay, Pascale
- Erez, Gilli
- Hubert, Laurence
- Saada, Ann
- de Keyzer, Yves
- Eshel, Gideon
- Vaz, Frédéric M
- Pines, Ophry
- Elpeleg, Orly
Producer: 20081118
In:
American journal of human genetics vol. 83
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66.
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67.
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68.
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Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation? [electronic resource] by
- Thiels, Charlotte
- Fleger, Martin
- Huemer, Martina
- Rodenburg, Richard J
- Vaz, Frederic M
- Houtkooper, Riekelt H
- Haack, Tobias B
- Prokisch, Holger
- Feichtinger, René G
- Lücke, Thomas
- Mayr, Johannes A
- Wortmann, Saskia B
Publication details: JIMD reports 2016
In:
JIMD reports vol. 29
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69.
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Peroxisomes can oxidize medium- and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4. [electronic resource] by
- Violante, Sara
- Achetib, Nihad
- van Roermund, Carlo W T
- Hagen, Jacob
- Dodatko, Tetyana
- Vaz, Frédéric M
- Waterham, Hans R
- Chen, Hongjie
- Baes, Myriam
- Yu, Chunli
- Argmann, Carmen A
- Houten, Sander M
Producer: 20200511
In:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 33
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70.
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Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans. [electronic resource] by
- Strijbis, Karin
- van Roermund, Carlo W T
- Hardy, Guy P
- van den Burg, Janny
- Bloem, Karien
- de Haan, Jolanda
- van Vlies, Naomi
- Wanders, Ronald J A
- Vaz, Frédéric M
- Distel, Ben
Producer: 20090818
In:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 23
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71.
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72.
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73.
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Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. [electronic resource] by
- Arends, Maarten
- Biegstraaten, Marieke
- Hughes, Derralynn A
- Mehta, Atul
- Elliott, Perry M
- Oder, Daniel
- Watkinson, Oliver T
- Vaz, Frédéric M
- van Kuilenburg, André B P
- Wanner, Christoph
- Hollak, Carla E M
Producer: 20171010
In:
PloS one vol. 12
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74.
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A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency. [electronic resource] by
- Ferdinandusse, 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, Frédéric M
- Waterham, Hans R
Producer: 20200309
In:
Human mutation vol. 40
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75.
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Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome. [electronic resource] by
- Houtkooper, Riekelt H
- Rodenburg, Richard J
- Thiels, Charlotte
- van Lenthe, Henk
- Stet, Femke
- Poll-The, Bwee Tien
- Stone, Janet E
- Steward, Colin G
- Wanders, Ronald J
- Smeitink, Jan
- Kulik, Willem
- Vaz, Frédéric M
Producer: 20090623
In:
Analytical biochemistry vol. 387
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76.
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Polyunsaturated fatty acid biostatus, phospholipase A [electronic resource] by
- McNamara, Robert K
- Szeszko, Philip R
- Smesny, Stefan
- Ikuta, Toshikazu
- DeRosse, Pamela
- Vaz, Frédéric M
- Milleit, Berko
- Hipler, Uta-Christina
- Wiegand, Cornelia
- Hesse, Jana
- Amminger, G Paul
- Malhotra, Anil K
- Peters, Bart D
Producer: 20171117
In:
Neuroscience vol. 343
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77.
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The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome. [electronic resource] by
- Huang, Yan
- Powers, Corey
- Moore, Victoria
- Schafer, Caitlin
- Ren, Mindong
- Phoon, Colin K L
- James, Jeanne F
- Glukhov, Alexander V
- Javadov, Sabzali
- Vaz, Frédéric M
- Jefferies, John L
- Strauss, Arnold W
- Khuchua, Zaza
Producer: 20180228
In:
Orphanet journal of rare diseases vol. 12
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78.
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Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. [electronic resource] by
- Berendse, Kevin
- Engelen, Marc
- Ferdinandusse, Sacha
- Majoie, Charles B L M
- Waterham, Hans R
- Vaz, Frédéric M
- Koelman, Johannes H T M
- Barth, Peter G
- Wanders, Ronald J A
- Poll-The, Bwee Tien
Producer: 20161017
In:
Journal of inherited metabolic disease vol. 39
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79.
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Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling. [electronic resource] by
- Tebani, Abdellah
- Schmitz-Afonso, Isabelle
- Abily-Donval, Lenaig
- Héron, Bénédicte
- Piraud, Monique
- Ausseil, Jérôme
- Brassier, Anais
- De Lonlay, Pascale
- Zerimech, Farid
- Vaz, Frédéric M
- Gonzalez, Bruno J
- Marret, Stephane
- Afonso, Carlos
- Bekri, Soumeya
Producer: 20180702
In:
Clinica chimica acta; international journal of clinical chemistry vol. 475
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80.
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Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution. [electronic resource] by
- Chatzispyrou, Iliana A
- Guerrero-Castillo, Sergio
- Held, Ntsiki M
- Ruiter, Jos P N
- Denis, Simone W
- IJlst, Lodewijk
- Wanders, Ronald J
- van Weeghel, Michel
- Ferdinandusse, Sacha
- Vaz, Frédéric M
- Brandt, Ulrich
- Houtkooper, Riekelt H
Producer: 20181211
In:
Biochimica et biophysica acta. Molecular basis of disease vol. 1864
Availability: No items available.
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