Detalhe da pesquisa
1.
ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
PLoS Genet
; 18(4): e1010192, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482848
2.
Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification.
Am J Pathol
; 192(5): 762-770, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35182493
3.
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Hum Mutat
; 43(9): 1183-1200, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35475527
4.
INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6-/- mouse model of pseudoxanthoma elasticum.
Exp Dermatol
; 31(7): 1095-1101, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35511611
5.
Weighing the Evidence for the Roles of Plasma Versus Local Pyrophosphate in Ectopic Calcification Disorders.
J Bone Miner Res
; 38(4): 457-463, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807615
6.
Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum.
J Invest Dermatol
; 142(8): 2140-2148.e1, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143822
7.
Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder.
Int J Dermatol Venereol
; 3(4): 198-204, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34925949