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Figure 1 from Anaplerotic therapy in propionic acidemia.

Figure 1 from Anaplerotic therapy in propionic acidemia.

ANAPLEROTIC THERAPY IN PROPIONIC ACIDEMIA - PMC - NCBI

Citrate in combination with aspartate stabilized the metabolic control of one patient with pyruvate carboxylase deficiency [16] and increased ...

Anaplerotic therapy in propionic acidemia - ScienceDirect.com

Patients with propionic acidemia cannot metabolize propionic acid, which combines with oxaloacetate to form methylcitric acid. This, with the defective supply ...

Anaplerotic therapy in propionic acidemia - PubMed

Patients with propionic acidemia cannot metabolize propionic acid, which combines with oxaloacetate to form methylcitric acid. This, with the defective supply ...

Figure 1 from Anaplerotic therapy in propionic acidemia.

Figure 1. Propionyl-CoA and glutamine metabolism in propionic acidemia. Propionyl-CoA is carboxylated by propionyl CoA carboxylase to become ...

Anaplerotic therapy in propionic acidemia | Request PDF

Patients with propionic acidemia cannot metabolize propionic acid, which combines with oxaloacetate to form methylcitric acid. This, with the defective supply ...

Biochemical and anaplerotic applications of in vitro models of ...

1 and Table S1), we found elevated levels of 13C-methylmalonic acid in all 3 MMA hepatocyte donors (Fig. ... Anaplerotic therapy in propionic acidemia. Mol. Genet ...

Understanding molecular mechanisms in propionic acidemia and ...

1. 1.1 Propionic acidemia (PA; MIM#606054) is one of the most ... anaplerotic therapy · antioxidants · antisense oligonucleotides · ataluren ...

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering ...

... Figure 1). Besides being part of CAC, aconitase 2 also plays an ... Anaplerotic Therapy in Propionic Acidemia. Mol. Genet. Metab. 2017, 122, 51 ...

Anaplerotic agents for treatment of disorders of propionate and long ...

Methods of treating propionic acidemia (PA), methylmalonic acidemia (MMA) and fatty acid oxidation disorders are described.

Figure 1 from Assessing the Reversibility of the Anaplerotic ...

This research characterized brain fatty acid oxidation and tested the effect of anaplerotic therapy ... propionic and methylmalonic acidemia. Expand. 17 ...

Genetics of Propionic Acidemia (Propionyl CoA Carboxylase ...

These authors noted a series of severe ketoacidotic episodes in the child that were precipitated by protein ingestion (specifically, methionine ...

Cardiac Complications in Patients with Propionic Acidemia

The usual treatment of long chain FAOs is with medium chain triglyceride oil, which can bypass the metabolic block, but doesn't address the ...

Biochemical and anaplerotic applications of in vitro models of ...

1. INTRODUCTION. Propionic acidemia (PA, MIM #606054) is an inborn error of metabolism caused by the dysfunction of propionyl-CoA carboxylase (PCC, ...

Pathophysiology of propionic and methylmalonic acidemias. Part 2 ...

... methylmalonic acid and often in accumulation of methylmalonylcarnitine (Figure 1). ... Anaplerotic therapy in propionic acidemia. Mol Genet Metab.

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl ...

For treatment studies, 1 mM citric acid disodium salt (Sigma ... Anaplerotic therapy in propionic acidemia. Mol. Genet Metab. 122, 51 ...

Interorgan amino acid interchange in propionic acidemia

1 and Tables 2 and 3. Fig. 1. figure 1. Multilevel linear ... Anaplerotic therapy in propionic acidemia. Mol Genet Metab 122:51–59 ...

Propionic Acidemia and Apert Syndrome | Molecular Syndromology ...

1). Examination findings were consistent with Apert syndrome ... et al. Anaplerotic therapy in propionic acidemia . Mol Genet Metab.

Hyperammonaemia in classic organic acidaemias: a review of the ...

1). Fig. 1. figure 1. Proposed biochemical pathogenesis of ... Anaplerotic therapy in propionic acidemia. Mol Genet Metab. 2017;122 ...

Fasting alleviates metabolic alterations in mice with propionyl-CoA ...

Propionic acidemia (PA), resulting from Pcca or Pccb gene mutations, impairs propionyl-CoA metabolism and induces metabolic alterations.

MR spectroscopy-based brain metabolite profiling in propionic ...

Propionic acidaemia (PA) results from deficiency of Propionyl CoA carboxylase, the commonest form presenting in the neonatal period.