Mevalonate kinase deficiency (MKD) is caused by mutations in the MVK gene, encoding the second enzyme of mevalonate pathway, which results in subsequent shortage of downstream compounds, and starts in childhood with febrile attacks, skin, joint, and gastrointestinal symptoms, sometimes induced by vaccinations.

Weekly oral alendronate in mevalonate kinase deficiency / Cantarini, Luca; Vitale, Antonio; Magnotti, Flora; Lucherini, Orso Maria; Caso, Francesco; Frediani, Bruno; Galeazzi, Mauro; Rigante, Donato. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - 8:1(2013), p. 196. [10.1186/1750-1172-8-196]

Weekly oral alendronate in mevalonate kinase deficiency

CASO, FRANCESCO;
2013

Abstract

Mevalonate kinase deficiency (MKD) is caused by mutations in the MVK gene, encoding the second enzyme of mevalonate pathway, which results in subsequent shortage of downstream compounds, and starts in childhood with febrile attacks, skin, joint, and gastrointestinal symptoms, sometimes induced by vaccinations.
2013
Weekly oral alendronate in mevalonate kinase deficiency / Cantarini, Luca; Vitale, Antonio; Magnotti, Flora; Lucherini, Orso Maria; Caso, Francesco; Frediani, Bruno; Galeazzi, Mauro; Rigante, Donato. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - 8:1(2013), p. 196. [10.1186/1750-1172-8-196]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/681863
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 16
  • ???jsp.display-item.citation.isi??? ND
social impact