Results 91 to 100 of about 883 (159)

ABCC6 Heterozygosity as Genetic Predisposition to Cerebrovascular Disease Across Ages. [PDF]

Genes (Basel)
Amico G, Severino M, Bertamino M, Pascarella R, Tortora D, Signa S, Rusmini M, Rossi A, Ceccherini I, Zedde M.   +9 more
europepmc   +1 more source

Genetic background of infantile hypophosphatemia: a narrative review. [PDF]

Transl Pediatr
Zeng X, Hu L.
europepmc   +1 more source

403 Etidronate prevents but does not reverse ectopic mineralization in Abcc6 -/- mice: Potential treatment of PXE and GACI [PDF]

Journal of Investigative Dermatology, 2016
Q. Li, J. Kingman, D. Wang, J.P. Sundberg, M.A. Levine, J. Uitto   +5 more
openaire   +1 more source

High Nasopharyngeal SARS-CoV-2 Load and Delayed Clearance in Hospitalized Patients With Blood Autoantibodies Neutralizing Type I Interferons. [PDF]

J Infect Dis
Marchal A, Kerdiles T, Perrin A, Gervais A, Bastard P, Bizien L, Lingas G, Massonnaud CR, Bouscambert-Duchamp M, Gaymard A, Peiffer-Smadja N, Mentre F, Guedj J, Abel L, Casanova JL, Puel A, Hites M, Ader F, Bertrand J, Cobat A, DisCoVeRy Study Group .   +20 more
europepmc   +1 more source

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis. [PDF]

Orphanet J Rare Dis
Bertamino M, Goldberg DJ, Mughal MZ, Pabst L, Liao YJ, Sun LR, Beckwell J, Kozaric A, du Moulin R, Swanner K, Ferreira CR, Ziegler SG.   +11 more
europepmc   +1 more source

Unique, Early Prenatal Presentation of Generalized Arterial Calcification of Infancy. [PDF]

CASE (Phila)
Zhang SR, Van Galder H, Joynt M, Thorsson T.   +3 more
europepmc   +1 more source

Therapeutic approaches for the treatment of genetic and acquired cardiovascular calcification. [PDF]

Front Cardiovasc Med
O'Brien K, Husson H, Sabbagh Y.
europepmc   +1 more source

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2. [PDF]

JBMR Plus
Ferreira CR, Hackbarth ME, Nitschke Y, Botschen U, Gafni RI, Mughal MZ, Baujat G, Schnabel D, Schou IM, Khursigara G, Reardon O, Burklow TR, Swanner K, Rutsch F.   +13 more
europepmc   +1 more source

Follow the Molecule from Crystal Arthropathy to Comorbidities: The 2024 G-CAN Gold Medal Award Awardee Lecture. [PDF]

Gout Urate Cryst Depos Dis
Terkeltaub R.
europepmc   +1 more source

Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion. [PDF]

J Endocrinol Invest
Bruno I, De Sanctis L, Foligno NE, Giambò F, Mora S, Parolin M, Vezzoli G.   +6 more
europepmc   +1 more source