Associated Papers
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA et al.
Human Mutation, 2022
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Ralph D et al.
Human Mutation, 2022
Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene.
Choe Y et al.
Frontiers in Endocrinology, 2022
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y et al.
Current Osteoporosis Reports, 2017
Two newborn babies with generalized arterial calcification of infancy, two new mutations.
Yapıcıoğlu-Yıldızdaş H et al.
The Turkish Journal of Pediatrics, 2016
Cole Disease Results from Mutations in ENPP1.
Eytan O et al.
American Journal of Human Genetics, 2013
Structure of NPP1, an ectonucleotide pyrophosphatase/phosphodiesterase involved in tissue calcification.
Jansen S et al.
Structure (london, England : 1993), 2012
Crystal structure of Enpp1, an extracellular glycoprotein involved in bone mineralization and insulin signaling.
Kato K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
Lorenz-Depiereux B et al.
American Journal of Human Genetics, 2010
Select a paper to view details