Results 81 to 90 of about 8,782 (207)
Maple syrup urine disease in Brazil: a panorama of the last two decades
Jornal de Pediatria, 2015 OBJECTIVE: To characterize a sample of Brazilian patients with maple syrup urine disease (MSUD) diagnosed between 1992 and 2011. METHODS: In this retrospective study, patients were identified through a national reference laboratory for the diagnosis of ...
Silvani Herber +8 more
doaj +3 more sources
Analytical Science Advances, Volume 6, Issue 2, December 2025.ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu +3 more
wiley +1 more source
Case report: maple syrup urine disease with a novel DBT gene mutation
BMC Pediatrics, 2019 Background Maple syrup urine disease (MSUD) is a potentially life-threatening metabolic disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex.
Wei Feng +3 more
doaj +1 more source
Stem 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 +1 more source
The prevalence of phenylketonuria among children with mental retardation in Kelantan [PDF]
, 2001 The prevalence of phenylketonuria (PKU) in Malaysia to date is not known since no study has been conducted to address the subject. The objectives of this study were to determine the prevalence of PKU among the mentally retarded children in Kelantan, to ...
Omar, Julia
core +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Classic isovaleric aciduria (cIVA) is a rare inherited metabolic disorder characterized by recurrent life‐threatening metabolic decompensations and neurocognitive impairment in untreated patients. This meta‐analysis aims to assess the impact of early diagnosis by newborn screening (NBS) on mortality and neurocognitive outcome.
Anna T. Reischl‐Hajiabadi +8 more
wiley +1 more source
New Developments in Screening for Inborn Errors of Metabolism [PDF]
, 1971 I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core +1 more source
Report of Pedigree Pattern of a Family with Two Members Affected with Maple Syrup Urine Disease
پزشکی بالینی ابن سینا, 1999 Present paper reports two cases of affected newborns with maple syrup urine disease (MSUD) in an Iranian rural family, and also explains the genetic counseling procedure.
Hamid Pour Jafari
doaj
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 +3 more
doaj +1 more source
Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease
Molecular Genetics and Metabolism Reports, 2015 Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched chain amino acids (BCAA) and branched chain ketoacids in the body.
H.L. Chin +6 more
doaj +1 more source