Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1

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

Frank Rutsch, Nico Ruf, Sucheta M. Vaingankar et al. · Nature Genetics · 2003 · 603 citations

Life Sciences, Genetics, Molecular Genetics +8

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

Bettina Lorenz‐Depiereux, Dirk Schnabel, Dov Tiosano et al. · The American Journal of Human Genetics · 2010 · 385 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification

Frank Rutsch, Sucheta M. Vaingankar, Kristen Johnson et al. · American Journal Of Pathology · 2001 · 300 citations · Full text

Medicine, Biochemistry, Pediatrics +6

Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene

Varda Levy-Litan, Eli Hershkovitz, Luba Avizov et al. · The American Journal of Human Genetics · 2010 · 295 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Frank Rutsch, Petra Böyer, Yvonne Nitschke et al. · Circulation Cardiovascular Genetics · 2008 · 222 citations · Full text

Medicine, Pediatrics, Physiology +14