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

Saved in:
Bibliographic Details
Title: Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.
Authors: Ferreira CR; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States., Hackbarth ME; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, United States., Nitschke Y; Department of General Pediatrics, Münster University Children's Hospital, 48149 Münster, Germany., Botschen U; Department of General Pediatrics, Münster University Children's Hospital, 48149 Münster, Germany., Gafni RI; National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States., Mughal MZ; Al Jalila Children's Specialty Hospital, Dubai, UAE., Baujat G; Département de Génétique, Centre de Référence Maladies Osseuses Constitutionnelles (CR MOC) et Filière OSCAR, Hôpital Necker-Enfants Malades, 75015 Paris, France., Schnabel D; Center for Chronically Sick Children, Pediatric Endocrinology, Charitè, University Medicine Berlin, 10117 Berlin, Germany., Schou IM; Pulse Economics Pty Ltd., Macquarie Park, NSW 2113, Australia., Khursigara G; Inozyme Pharma, Inc., Boston, MA 02210, United States., Reardon O; Pulse Economics Pty Ltd., Macquarie Park, NSW 2113, Australia., Burklow TR; NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, United States., Swanner K; Inozyme Pharma, Inc., Boston, MA 02210, United States., Rutsch F; Department of General Pediatrics, Münster University Children's Hospital, 48149 Münster, Germany.
Source: JBMR plus [JBMR Plus] 2025 Jan 30; Vol. 9 (5), pp. ziaf019. Date of Electronic Publication: 2025 Jan 30 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2473-4039
DOI:10.1093/jbmrpl/ziaf019