The 2-oxo acid dehydrogenase complexes are large multienzyme complexes that catalyse the irreversible oxidative decarboxylation of a specific 2-oxo acid to the corresponding acyl-CoA derivative.
Berg, A.
core
A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel. [PDF]
Abelson N +6 more
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Beyond BRUE (Brief Resolved Unexplained Event): Recurrent Unexplained Events Revealing Congenital Hyperinsulinism in Infancy. [PDF]
Khan MA, Khan F, Chohan N, Alsamawi S.
europepmc +1 more source
Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series. [PDF]
Betesh-Abay B +4 more
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Untargeted Metabolomic and Lipidomic Profiling Reveals Distinct Biochemical Patterns in Treated Biotinidase Deficiency. [PDF]
Ünlü Torlak E +12 more
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Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease. [PDF]
Manoy S +9 more
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Non-invasive biomarkers for diagnosis and monitoring of primary mitochondrial diseases. [PDF]
Arena IG +3 more
europepmc +1 more source
Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis. [PDF]
Zheng Z, Peng W, Lin Y, Lin W, Wang G.
europepmc +1 more source
The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]
Lipiński P, Doroba A.
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