Results 81 to 90 of about 883 (159)

Long-term survival and phenotypic expansion in siblings with generalized arterial calcification of infancy. [PDF]

JCEM Case Rep
Resnick O, Ashraf A.
europepmc   +1 more source

Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology. [PDF]

Int J Mol Sci
Heiduschka P, Nitschke Y, Clemens C, Storp J, Eter N, Rutsch F.   +5 more
europepmc   +1 more source

Novel <i>ENPP</i>1 Gene Mutation Causing Generalized Arterial Calcification of Infancy: A case report. [PDF]

Neurosciences (Riyadh)
AlTurki HM, AlFaris HS, Al-Owain MA, Abukhalid MF.   +3 more
europepmc   +1 more source

Vibratory Characteristics and Quantitative Parameters of Laryngeal Dystonia: A Scoping Review of High-Speed Videoendoscopy Studies. [PDF]

World J Otorhinolaryngol Head Neck Surg
Hu YJ, Song J, Zheng SN, Xing L, Feng YJ, Wu ST, Zeng SY, Tan YS, Chen QT, Zhuang PY.   +9 more
europepmc   +1 more source

Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases. [PDF]

Int J Mol Sci
Wagenknecht JB, Haque N, Jorge SD, Ratnasinghe BD, Urrutia R, Gahl WA, Ziegler SG, Zimmermann MT.   +7 more
europepmc   +1 more source

Natural variation of the streptococcal group A carbohydrate biosynthesis genes impacts host-pathogen interaction. [PDF]

Microb Genom
Schipper K, Tamminga SM, Murner N, Davies M, Berkhout P, Bessen DE, Hendriks A, Korotkova N, Pannekoek Y, van Sorge NM.   +9 more
europepmc   +2 more sources

Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel <i>ENPP1</i> variant. [PDF]

Pathologica
Buccoliero AM, Mancano G, Cioni ML, Panzuto C, Artuso R, Palazzo V, Calabri GB, Capponi G, Ponticelli A, Caporalini C, Bertini F, D'Incerti L, Severi E, Peron A, Moroni M.   +14 more
europepmc   +1 more source

Six cases of <i>ENPP1</i> pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy. [PDF]

JBMR Plus
Collins L, Sandy J, Ly S, Lomax KE, Black S, McKenzie F, Hayes E, Poulton C, Jefferies C, Hunter W, Simm P, Rodda C, Biggin A, Munns C, Siafarikas A.   +14 more
europepmc   +1 more source

When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia. [PDF]

Curr Osteoporos Rep
Ferreira CR, Imel EA.
europepmc   +1 more source

Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare ABCC6 Mutation. [PDF]

J Pers Med, 2023
Yao R, Yang F, Zhang Q, Yu T, Yu Y, Chang G, Wang X.   +6 more
europepmc   +1 more source