Results 131 to 140 of about 29,481 (254)
Natural Osmolyte Trimethylamine N-Oxide Corrects Assembly Defects of Mutant Branched-chain α-Ketoacid Decarboxylase in Maple Syrup Urine Disease [PDF]
Jiu-Li Song, David Chuang
openalex +1 more source
Maple Syrup Urine Disease [PDF]
Jorge Alvarez+2 more
openaire +2 more sources
Maple syrup urine disease type Ib (MSUD Ib) is an autosomal recessive genetic metabolic disease caused by homozygous or compound heterozygous mutation in BCKDHB on chromosome 6q14. We generated an induced pluripotent stem cell (iPSC) line from peripheral
Yue Li+10 more
doaj
Whole-Body l-Leucine Oxidation in Patients with Variant Form of Maple Syrup Urine Disease [PDF]
Peter Schadewaldt+3 more
openalex +1 more source
Biochemical Basis of Type IB (E1β) Mutations in Maple Syrup Urine Disease [PDF]
Richard Wynn+4 more
openalex +1 more source
Intramyelinic edema in maple syrup urine disease
Leema Pauline Cornelius+3 more
doaj +1 more source
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+3 more
doaj
A study to determine the value of group teaching to the individual diabetic as he perceives it [PDF]
Thesis (M.S.)--Boston ...
Johns, Marjorie P.
core
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease [PDF]
Marco Henneke+6 more
openalex +1 more source