Results 101 to 110 of about 5,966 (238)

First person – Hui-Ying Tsai and Shih-Cheng Wu

Disease Models & Mechanisms, 2020
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj   +1 more source

Treatment of the Acute Crisis in Maple Syrup Urine Disease [PDF]

, 1998
William L. Nyhan, M Rice-Kelts, Jon B. Klein, Bruce A. Barshop   +3 more
openalex   +1 more source

Thiamine-responsive maple syrup urine disease

Definitions, 2020

semanticscholar   +1 more source

Biochemical Basis of Type IB (E1β) Mutations in Maple Syrup Urine Disease [PDF]

, 2001
Richard Wynn, Jacinta L. Chuang, Claude Sansaricq, Hanna Mandel, David Chuang   +4 more
openalex   +1 more source

Natural Osmolyte Trimethylamine N-Oxide Corrects Assembly Defects of Mutant Branched-chain α-Ketoacid Decarboxylase in Maple Syrup Urine Disease [PDF]

, 2001
Jiu-Li Song, David Chuang
openalex   +1 more source

Maple Syrup Urine Disease [PDF]

Pediatrics & Therapeutics, 2016
Jorge Alvarez, Gerardo Rivera Silva, Héctor R Martínez Menchaca   +2 more
openaire   +2 more sources

Whole-Body l-Leucine Oxidation in Patients with Variant Form of Maple Syrup Urine Disease [PDF]

, 2001
Peter Schadewaldt, Annette Bodner-Leidecker, Hans‐Werner Hammen, U. Wendel   +3 more
openalex   +1 more source

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease [PDF]

, 2003
Marco Henneke, Nadine Flaschker, Christoph Helbling, Martina Müller‐Nurasyid, Peter Schadewaldt, Jutta Gärtner, U. Wendel   +6 more
openalex   +1 more source

Structural and Biochemical Basis for Novel Mutations in Homozygous Israeli Maple Syrup Urine Disease Patients [PDF]

, 2004
Jacinta L. Chuang, Richard Wynn, C. Moss, Jiu-li Song, Jun Li, Nibal Awad, Hanna Mandel, David Chuang   +7 more
openalex   +1 more source

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.

Molecular Genetics and Metabolism, 2020
K. Strauss, K. Strauss, K. Strauss, Vincent J. Carson, K. Soltys, Millie Young, Lauren E. Bowser, E. Puffenberger, Karlla W Brigatti, Katie B Williams, Donna L. Robinson, Christine Hendrickson, Keturah Beiler, Cora M. Taylor, Barbara Haas-Givler, Stephanie A. Chopko, Jennifer Hailey, Emilie R Muelly, D. Shellmer, Zach Radcliff, Ashlin S. Rodrigues, KaLynn K. Loeven, Adam D. Heaps, G. Mazariegos, D. Morton   +24 more
semanticscholar   +1 more source