Results 131 to 140 of about 29,481 (254)

Maple Syrup Urine Disease [PDF]

open access: yesPediatrics & Therapeutics, 2016
Jorge Alvarez   +2 more
openaire   +2 more sources

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene

open access: yesStem Cell Research, 2019
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]

open access: bronze, 2001
Peter Schadewaldt   +3 more
openalex   +1 more source

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

open access: hybrid, 2001
Richard Wynn   +4 more
openalex   +1 more source

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

open access: yesMolecular Genetics and Metabolism, 2020
K. Strauss   +24 more
semanticscholar   +1 more source

Intramyelinic edema in maple syrup urine disease

open access: yesAnnals of Indian Academy of Neurology, 2014
Leema Pauline Cornelius   +3 more
doaj   +1 more source

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

open access: yesMolecular 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   +3 more
doaj  

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

open access: gold, 2003
Marco Henneke   +6 more
openalex   +1 more source

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