for patients

Proteomic assay for Fabry disease

Proteomic assay for Fabry disease Fabry disease (FD) is an X-linked glycosphingolipid lysosomal storage disorder, which affects approximately 1 in 40 000 – 117 000 males. Female patients may have different manifestations of the disease, although its prevalence in females is unknown.

CYSTIC FIBROSIS WORLDWIDE HYGIENE GUIDELINES for People with Cystic Fibrosis when attending CF Related Events

Cystic fibrosis is a genetic disease, the cause of which is the presence of pathological variants of both copies of CFTR gene. The CFTR protein is a channel, which transfers chloride ions.

Diagnostic odyssey of patients with mitochondrial diseases. Information about diagnosis, about those who diagnoses and some numbers

🎓Status quo🎓 They contain 37 genes, they are found inside our cells, they are reproduced by binary division, possibly before symbiosis with ancient eukaryotes they lived as independent organisms, and in reproductive biology it is already possible to use them from a healthy donor.

“Hope Should Never Be Rare”

This article starts with a story about a child who was diagnosed with spinal muscular atrophy with respiratory distress (SMARD) and follows the idea that there is no a single country where the health care system would be able to respond the needs of 100% of patients.