Combined oxidative phosphorylation deficiency type 17 (often written as COXPD17) is a very rare genetic disease that affects the “power stations” of the cell, ...

Combined oxidative phosphorylation deficiency caused by mutation in ELAC2 is a very rare genetic disease that mostly affects the heart and brain. It belongs to ...

Combined oxidative phosphorylation defect type 17 (also called COXPD17) is a very rare genetic disease that affects the tiny “power stations” inside cells, ...

MTFMT combined oxidative phosphorylation deficiency is a rare inherited disease of the tiny “power plants” inside our cells, called mitochondria. In this ...

Combined oxidative phosphorylation deficiency caused by mutation in MTFMT (also called combined oxidative phosphorylation defect type 15 or COXPD15) is a very ...

Combined oxidative phosphorylation defect type 15 is a very rare inherited disease that affects how the “power stations” of the cell, called mitochondria, make ...

FARS2 combined oxidative phosphorylation deficiency is a very rare mitochondrial disease. It happens when a gene called FARS2 does not work properly, so the ...

Combined oxidative phosphorylation deficiency caused by mutation in FARS2 is a very rare genetic disease that affects how the “power plants” of the cell, ...

Combined oxidative phosphorylation defect type 14 (often written as COXPD14) is a very rare, serious genetic disease that affects how the tiny “power stations” ...

PNPT1 combined oxidative phosphorylation deficiency type 13 (often shortened to COXPD13) is a very rare genetic disease that mainly affects how the body’s ...

Combined oxidative phosphorylation deficiency caused by mutation in PNPT1 (also called COXPD13) is a very rare inherited mitochondrial disease. It happens when ...

Combined oxidative phosphorylation defect type 13 (often shortened to COXPD13) is a very rare genetic disease that affects how the tiny “power plants” inside ...

RMND1 combined oxidative phosphorylation deficiency type 11 is a very rare genetic mitochondrial disease. It happens when both copies of a gene called RMND1 do ...

Combined oxidative phosphorylation deficiency caused by mutation in RMND1 is a very rare inherited disease in which the tiny “power stations” of the cell ...

Combined oxidative phosphorylation defect type 11 (often shortened to COXPD11) is a very rare, inherited disease that affects the “power stations” of the ...

Xanthine oxidase–sulfite oxidase deficiency is a very rare, serious genetic disease. In this condition, two important enzymes in the body, xanthine oxidase ...

Sulfite oxidase deficiency due to molybdenum cofactor deficiency is a very rare genetic disease. In this condition, the body cannot make a small helper ...

Hereditary xanthinuria type 2 is a very rare, life-long (genetic) disease of purine metabolism, which is the way the body breaks down some building blocks of ...

Deficiency of molybdenum cofactor (often shortened to MoCD) is a very rare inherited disease. In this disease, the body cannot make a tiny helper molecule ...

Combined xanthine oxidase and aldehyde oxidase deficiency is a very rare inherited problem with body chemistry. In this condition, two enzymes called xanthine ...