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UnknownAspects of Newborn Screening in Isovaleric Acidemia.
Not available
S-EPMC7548899 | biostudies-literature
UnknownClinical and neurocognitive outcome in symptomatic isovaleric acidemia.
Not available
S-EPMC3292949 | biostudies-literature
ProteomicsReprograming of Proteasomal Degradation by Branched Chain Amino Acid Metabolism
Branched chain amino acids (BCAAs) play an important role in energy and protein regulation. Defects in BCAA metabolism are linked to numerous pathologies, including diabetes, neurodegeneration, and premature aging. Isovaleric acidemia is a metabolic disease caused by defective leucine breakdown and ...
ORGANISM(S): Caenorhabditis elegans 
2022-09-22 | PXD028286 | Pride
C. elegans  ubiquitin  leucine catabolism  branched chain amino acid (bcaa)  bcat  ivd  isovaleric acidemia 
UnknownPrenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.
Not available
S-EPMC9280075 | biostudies-literature
UnknownA common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Not available
S-EPMC1182150 | biostudies-literature
UnknownPractical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.
Not available
S-EPMC12551068 | biostudies-literature
UnknownDifferent spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.
Not available
S-EPMC4136440 | biostudies-literature
UnknownStructural Insights into Isovaleryl-Coenzyme A Dehydrogenase: Mechanisms of Substrate Specificity and Implications of Isovaleric Acidemia-Associated Mutations.
Not available
S-EPMC12369846 | biostudies-literature
UnknownNewborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.
Not available
S-EPMC11571094 | biostudies-literature
UnknownAn unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report.
Not available
S-EPMC9260163 | biostudies-literature
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