Works matching IS 01418955 AND DT 2022 AND VI 45 AND IP 1

Results: 15

Review of the book "Vademecum Metabolicum, fifth edition".

Published in:: Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 125, doi. 10.1002/jimd.12465
Publication type:: Article

Barth syndrome and the many fascinating aspects of cardiolipin.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 1, doi. 10.1002/jimd.12460

By:

Vaz, Frédéric M.;
Wanders, Ronald J. A.;
Vernon, Hilary

Publication type:

Article

Long‐chain fatty acid oxidation and respiratory complex I deficiencies distinguish Barth Syndrome from idiopathic pediatric cardiomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 111, doi. 10.1002/jimd.12459

By:

Chatfield, Kathryn C.;
Sparagna, Genevieve C.;
Specht, Kalyn S.;
Whitcomb, Luke A.;
Omar, Asma K.;
Miyamoto, Shelley D.;
Wolfe, Lisa M.;
Chicco, Adam J.

Publication type:

Article

Obituary for Dr. Brian H. Robinson, PhD.

Published in:

2022

By:

Cameron, Jessie;
Tein, Ingrid

Publication type:

Obituary

Current and future treatment approaches for Barth syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 17, doi. 10.1002/jimd.12453

By:

Thompson, Reid;
Jefferies, John;
Wang, Suya;
Pu, William T.;
Takemoto, Clifford;
Hornby, Brittany;
Heyman, Andrea;
Chin, Michael T.;
Vernon, Hilary J.

Publication type:

Article

Interplay between cardiolipin and plasmalogens in Barth syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 99, doi. 10.1002/jimd.12449

By:

Bozelli, José Carlos;
Epand, Richard M.

Publication type:

Article

Cardiolipin function in the yeast S. cerevisiae and the lessons learned for Barth syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 60, doi. 10.1002/jimd.12447

By:

Ji, Jiajia;
Greenberg, Miriam L.

Publication type:

Article

A simple mechanistic explanation for Barth syndrome and cardiolipin remodeling.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 51, doi. 10.1002/jimd.12445

By:

Xu, Yang;
Phoon, Colin K. L.;
Ren, Mindong;
Schlame, Michael

Publication type:

Article

The lipid environment modulates cardiolipin and phospholipid constitution in wild type and tafazzin‐deficient cells.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 38, doi. 10.1002/jimd.12433

By:

Oemer, Gregor;
Koch, Jakob;
Wohlfarter, Yvonne;
Lackner, Katharina;
Gebert, Rita E. M.;
Geley, Stephan;
Zschocke, Johannes;
Keller, Markus A.

Publication type:

Article

Barth Syndrome Foundation: From humble beginnings to becoming an integral partner.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 3, doi. 10.1002/jimd.12432

By:

Lontok, Erik;
Milligan, Emily;
Bowen, Valerie M.;
McCurdy, Katherine R.

Publication type:

Article

Mechano‐energetic aspects of Barth syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 82, doi. 10.1002/jimd.12427

By:

Dudek, Jan;
Maack, Christoph

Publication type:

Article

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 29, doi. 10.1002/jimd.12425

By:

Vaz, Frédéric M.;
van Lenthe, Henk;
Vervaart, Martin A. T.;
Stet, Femke S.;
Klinkspoor, Johanne H.;
Vernon, Hilary J.;
Goorden, Susan M. I.;
Houtkooper, Riekelt H.;
Kulik, Willem;
Wanders, Ronald J. A.

Publication type:

Article

Experimental models of Barth syndrome.

Published in:: Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 72, doi. 10.1002/jimd.12423
Publication type:: Article

Clinical presentation and natural history of Barth Syndrome: An overview.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 7, doi. 10.1002/jimd.12422

By:

Taylor, Carolyn;
Rao, Emily S.;
Pierre, Germaine;
Chronopoulou, Estathia;
Hornby, Brittany;
Heyman, Andrea;
Vernon, Hilary J.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2022, v. 45, n. 1, p. 1, doi. 10.1002/jimd.12395
Publication type:: Article