Carnitine biosynthesis in mammals.

Por Vaz, Frédéric M, Wanders, Ronald J A
Publicado em 2002

Dietary fat and fiber interactively modulate apoptosis and mitochondrial bioenergetic profiles in mouse colon in a site-specific manner

Por Fan, Yang-Yi, Vaz, Frederic M., Chapkin, Robert S.
Publicado no Eur J Cancer Prev (2017)

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment

Por Huidekoper, Hidde H., Vaz, Frédéric M., Verrips, Aad, Bosch, Annet M.
Publicado no Eur J Pediatr (2015)

Acylcarnitines: Reflecting or Inflicting Insulin Resistance?

Por Schooneman, Marieke G., Vaz, Frédéric M., Houten, Sander M., Soeters, Maarten R.
Publicado em 2013

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

Por Ferdinandusse, Sacha, Ebberink, Merel S., Vaz, Frédéric M., Waterham, Hans R., Wanders, Ronald J. A.
Publicado no J Inherit Metab Dis (2016)

Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Dise...

Por Saini-Chohan, Harjot K., Mitchell, Ryan W., Vaz, Frédéric M., Zelinski, Teresa, Hatch, Grant M.
Publicado em 2012

Mouse Tafazzin Is Required for Male Germ Cell Meiosis and Spermatogenesis

Por Cadalbert, Laurence C., Ghaffar, Farah Naz, Stevenson, David, Bryson, Sheila, Vaz, Frédéric M., Gottlieb, Eyal, Strathdee, Douglas
Publicado no PLoS One (2015)

The Cellular and Molecular Mechanisms for Neutropenia in Barth Syndrome

Por Makaryan, Vahagn, Kulik, Willem, Vaz, Frederic M., Allen, Christopher, Dror, Yigal, Dale, David C., Aprikyan, Andranik A.
Publicado no Eur J Haematol (2011)

Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method

Por Bleyle, Lisa, Huidekoper, Hidde H., Vaz, Frederic M., Singh, Renu, Steiner, Robert D., DeBarber, Andrea E.
Publicado no Mol Genet Metab Rep (2016)

Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles

Por Heiner-Fokkema, M. Rebecca, Vaz, Frédéric M., Maatman, Ronald, Kluijtmans, Leo A. J., van Spronsen, Francjan J., Reijngoud, Dirk-Jan
Publicado no JIMD Rep (2016)

Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse

Por van Vlies, Naomi, Tian, Liqun, Overmars, Henk, Bootsma, Albert H., Kulik, Willem, Wanders, Ronald J. A., Wood, Philip A., Vaz, Frédéric M.
Publicado em 2005

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios

Por Vaz, Frédéric M., Bootsma, Albert H., Kulik, Willem, Verrips, Aad, Wevers, Ron A., Schielen, Peter C., DeBarber, Andrea E., Huidekoper, Hidde H.
Publicado no J Lipid Res (2017)

Distinct Effects of Tafazzin Deletion in Differentiated and Undifferentiated Mitochondria

Por Acehan, Devrim, Khuchua, Zaza, Houtkooper, Riekelt H., Malhotra, Ashim, Kaufman, Johanna, Vaz, Frédéric M., Ren, Mindong, Rockman, Howard A., Stokes, David L., Schlame, Michael
Publicado em 2008

Deletion of the Cardiolipin-specific Phospholipase Cld1 Rescues Growth and Life Span Defects in the Tafazzin Mutant: IMPLICATIONS FOR BARTH SYNDROME

Por Ye, Cunqi, Lou, Wenjia, Li, Yiran, Chatzispyrou, Iliana A., Hüttemann, Maik, Lee, Icksoo, Houtkooper, Riekelt H., Vaz, Frédéric M., Chen, Shuliang, Greenberg, Miriam L.
Publicado em 2014

Cardiolipin provides an essential activating platform for caspase-8 on mitochondria

Por Gonzalvez, Francois, Schug, Zachary T., Houtkooper, Riekelt H., MacKenzie, Elaine D., Brooks, David G., Wanders, Ronald J.A., Petit, Patrice X., Vaz, Frédéric M., Gottlieb, Eyal
Publicado em 2008

Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease

Por Skrunes, Rannveig, Tøndel, Camilla, Leh, Sabine, Larsen, Kristin Kampevold, Houge, Gunnar, Davidsen, Einar Skulstad, Hollak, Carla, van Kuilenburg, André B.P., Vaz, Frédéric M., Svarstad, Einar
Publicado no Clin J Am Soc Nephrol (2017)

Cardiolipin Molecular Species with Shorter Acyl Chains Accumulate in Saccharomyces cerevisiae Mutants Lacking the Acyl Coenzyme A-binding Protein Acb1p: NEW INSIGHTS INTO ACYL CHAI...

Por Rijken, Pieter J., Houtkooper, Riekelt H., Akbari, Hana, Brouwers, Jos F., Koorengevel, Martijn C., de Kruijff, Ben, Frentzen, Margrit, Vaz, Frédéric M., de Kroon, Anton I. P. M.
Publicado em 2009

Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios

Por Herzog, Katharina, Pras-Raves, Mia L., Vervaart, Martin A. T., Luyf, Angela C. M., van Kampen, Antoine H. C., Wanders, Ronald J. A., Waterham, Hans R., Vaz, Frédéric M.
Publicado no J Lipid Res (2016)

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

Por 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
Publicado no Eur J Hum Genet (2015)

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Por 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
Publicado em 2008