Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Frank Rutsch, Nico Ruf, Sucheta M. Vaingankar, +19

Nature Genetics

Developmental BiologyGeneticsPathologyInfantile Arterial CalcificationVascular Biology +5

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, +28

The American Journal of Human Genetics

MechanobiologyDevelopmental AnomalyEither Enpp1Arterial CalcificationGenetics +5

Calcification of articular cartilage in human osteoarthritis

M. Fuerst, Jessica Bertrand, L. Lammers, +10

Arthritis & Rheumatism

Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated With Survival Beyond Infancy in Generalized Arterial Calcification of Infancy

Frank Rutsch, Petra Böyer, Yvonne Nitschke, +13

Circulation Cardiovascular Genetics

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Frank Rutsch, Susann Gailus, Isabelle R. Miousse, +17

Nature Genetics

Vitamin NutritionBiochemistryBioanalysisVitamin B12 MetabolismBiochemical Genetics +6

The mutational spectrum of<i>ENPP1</i>as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

Nico Ruf, Birgit Uhlenberg, Robert Terkeltaub, +2

Human Mutation

Vascular DiseaseUnrelated PatientsGeneticsArterial CalcificationGenetic Epidemiology +14

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)

Carlos R. Ferreira, Mary E. Hackbarth, Shira G. Ziegler, +20

Genetics in Medicine

NeonatologyCardiovascular DiseasePediatric Heart DiseaseMedicineArterial Reconstructions +7

An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy

Gaëlla Boulanger, Christine Labrèze, Anne Croué, +5

American Journal of Medical Genetics Part A

GeneticsArterial CalcificationVascular MalformationCongenital Heart AnomalyAbcc6 Gene +16

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

Yvonne Nitschke, Frank Rutsch

Frontiers in Genetics

Vascular DiseaseArterial CalcificationVascular MalformationPathologyAnatomy +19

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Carlos R. Ferreira, Kristina Kintzinger, Mary E. Hackbarth, +12

Journal of Bone and Mineral Research

Arterial CalcificationGenetic EpidemiologyOrgan CalcificationCongenital Heart AnomalyTranslational Medicine +15