Results 51 to 60 of about 11,541 (279)
Stem Cell Research, 2021 Maple syrup urine disease (MSUD) type Ib is a subclass of MSUD (248600) which is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex. An induced pluripotent stem cell (iPSC) line was generated from an 11-
Bin Wang +4 more
doaj
Branched-Chain Amino Acid Negatively Regulates KLF15 Expression via PI3K-AKT Pathway. [PDF]
, 2017 Recent studies have linked branched-chain amino acid (BCAA) with numerous metabolic diseases. However, the molecular basis of BCAA's roles in metabolic regulation remains to be established.
Dong, Weibing +5 more
core +2 more sources
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
Inhibition of brain energy metabolism by the α-keto acids accumulating in maple syrup urine disease [PDF]
, 2003 Neurological dysfunction is a common finding in patients with maple syrup urine disease (MSUD). However, the mechanisms underlying the neuropathology of brain damage in this disorder are poorly known.
Dutra-Filho, Carlos S. +7 more
core +1 more source
Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy
Pediatrics and Neonatology, 2016 Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine).
Jia-Woei Hou
doaj +1 more source
Confluent Thalamic Hyperintensities in CADASIL [PDF]
, 2010 Background: CADASIL is responsible for diffuse hyperintensities in the white matter on FLAIR images. These lesions are often associated with focal lesions in the basal ganglia such as lacunar infarctions.
Chabriat, Hugues +6 more
core +1 more source
Potential diagnostic of Branched-Chain Ketoaciduria by HPLC-DAD [PDF]
, 2014 A system of high performance liquid chromatography (HPLC) was used for the development and validation of efficient method for quantitative determination of three aminoacids involved in the inherited metabolic disease Branched-Chain Ketoaciduria (BCK ...
Alves, Atecla Nunciata Lopes +4 more
core +1 more source
Multilayered genetic and omics dissection of mitochondrial activity in a mouse reference population [PDF]
, 2014 The manner by which genotype and environment affect complex phenotypes is one of the fundamental questions in biology. In this study, we quantified the transcriptome--a subset of the metabolome--and, using targeted proteomics, quantified a subset of the ...
Aebersold, R. +12 more
core +6 more sources
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Phenylbutyrate therapy for maple syrup urine disease [PDF]
Human Molecular Genetics, 2010 Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate in urea cycle disorder patients has been associated with a selective reduction in branched-chain amino acids (BCAA) in spite of adequate dietary protein intake. Based on this clinical observation, we investigated the potential of phenylbutyrate treatment to lower BCAA and their ...
BRUNETTI PIERRI, NICOLA +13 more
openaire +4 more sources