Results 121 to 130 of about 26,062 (264)

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

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

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

Intramyelinic edema in maple syrup urine disease

Annals of Indian Academy of Neurology, 2014
Leema Pauline Cornelius, B. Kannan, Viveka Saravanan, Eswaradass Prasanna Venkatesan   +3 more
doaj   +1 more source

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

Molecular Genetics and Metabolism Reports, 2018
Incidence for the branched-chain intoxication-type disorders, maple syrup urine disease, propionic acidemia and methlymalonic aciduria is dependent on the population screened.
Kimberly A. Chapman, Gwendolyn Gramer, Sarah Viall, Marshall L. Summar   +3 more
doaj  

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

Reply to: “Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease” [PDF]

, 2006
K. Strauss, T. Hartman, George Mazariegos   +2 more
openalex   +1 more source

Maple Syrup Urine Disease: An Uncommon Cause of Neonatal Febrile Seizures. [PDF]

Cureus, 2023
K K H, Ajmera P, Agarwal A, Dahiya A, Parripati VK.   +4 more
europepmc   +1 more source

Testing Causal Explanations: A Case Study for Understanding the Effect of Interventions on Chronic Kidney Disease [PDF]

arXiv
Randomized controlled trials (RCTs) are the standard for evaluating the effectiveness of clinical interventions. To address the limitations of RCTs on real-world populations, we developed a methodology that uses a large observational electronic health record (EHR) dataset.
arxiv