Disease: Pyruvate carboxylase deficiency
- A Rare Case of Type B Neonatal Pyruvate Carboxylase Enzyme Deficiency Presenting With Refractory Lactic Acidosis in the Early Neonatal Period
- Analysis of child with pyruvate carboxylase deficiency type A due to compound heterozygous variants of the PC gene
- Biotin Deficiency
- Biotin Deficiency
- Biotinidase Deficiency
- Biotinidase Deficiency
- Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B
- Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin
- Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency
- Comprehensive isotopomer analysis of glutamate and aspartate in small tissue samples
- Deficiency of transcription factor Nkx6.1 does not prevent insulin secretion in INS-1E cells
- Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants
- Generation of an induced pluripotent stem cell line (SHCDNi007-A) from a patient with pyruvate carboxylase deficiency carrying compound heterozygous (c.182 T > C/ c.2581G > A) variants in PC
- Generation of an induced pluripotent stem cell line (SHCDNi007-A) from a patient with pyruvate carboxylase deficiency carrying compound heterozygous (c.182 T > C/ c.2581G > A) variants in PC
- Genome-Wide CRISPR/Cas9 Library Screening Revealed Dietary Restriction of Glutamine in Combination with Inhibition of Pyruvate Metabolism as Effective Liver Cancer Treatment
- Human IP<sub>3</sub> receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolism
- In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency
- Long-term chronic food-derived arsenic exposure induce the urinary system metabolic dysfunction in mice
- Meta-analysis of transcriptomic profiles in <em>Dunaliella tertiolecta</em> reveals molecular pathway responses to different abiotic stresses
- Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease
- Pyruvate Carboxylase Deficiency
- Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin
- Staphylococcal aconitase expression during iron deficiency is controlled by an sRNA-driven feedforward loop and moonlighting activity
- Stepwise metabolic engineering of Corynebacterium glutamicum for the production of phenylalanine
- Survival Pathways of HIF-Deficient Tumour Cells: TCA Inhibition, Peroxisomal Fatty Acid Oxidation Activation and an AMPK-PGC-1α Hypoxia Sensor
- The opposite role of lactate dehydrogenase a (LDHA) in cervical cancer under energy stress conditions