Lifelong impact of ENPP1 Deficiency and the early onset form of ABCC6 Deficiency from patient or caregiver perspective

The ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) and ATP-binding cassette subfamily C member 6 (ABCC6) proteins play a prominent role in inhibiting ectopic calcification and arterial stenosis. Patients with ENPP1 Deficiency or infant onset ABCC6 Deficiency often present w...

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Detalles Bibliográficos
Autores principales: O’Brien, Christine, Khursigara, Gus, Huertas, Pedro, Leiro, Beth, Molloy, Liz, Nester, Catherine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9328542/
https://www.ncbi.nlm.nih.gov/pubmed/35895733
http://dx.doi.org/10.1371/journal.pone.0270632

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