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

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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
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  Data: <searchLink fieldCode="AU" term="%22Ferreira+CR%22">Ferreira CR</searchLink>; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Hackbarth+ME%22">Hackbarth ME</searchLink>; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Nitschke+Y%22">Nitschke Y</searchLink>; Department of General Pediatrics, Münster University Children's Hospital, 48149 Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Botschen+U%22">Botschen U</searchLink>; Department of General Pediatrics, Münster University Children's Hospital, 48149 Münster, Germany.<br /><searchLink fieldCode="AU" term="%22Gafni+RI%22">Gafni RI</searchLink>; National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Mughal+MZ%22">Mughal MZ</searchLink>; Al Jalila Children's Specialty Hospital, Dubai, UAE.<br /><searchLink fieldCode="AU" term="%22Baujat+G%22">Baujat G</searchLink>; Département de Génétique, Centre de Référence Maladies Osseuses Constitutionnelles (CR MOC) et Filière OSCAR, Hôpital Necker-Enfants Malades, 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Schnabel+D%22">Schnabel D</searchLink>; Center for Chronically Sick Children, Pediatric Endocrinology, Charitè, University Medicine Berlin, 10117 Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Schou+IM%22">Schou IM</searchLink>; Pulse Economics Pty Ltd., Macquarie Park, NSW 2113, Australia.<br /><searchLink fieldCode="AU" term="%22Khursigara+G%22">Khursigara G</searchLink>; Inozyme Pharma, Inc., Boston, MA 02210, United States.<br /><searchLink fieldCode="AU" term="%22Reardon+O%22">Reardon O</searchLink>; Pulse Economics Pty Ltd., Macquarie Park, NSW 2113, Australia.<br /><searchLink fieldCode="AU" term="%22Burklow+TR%22">Burklow TR</searchLink>; NIH Clinical Center, National Institutes of Health, Bethesda, MD 20892, United States.<br /><searchLink fieldCode="AU" term="%22Swanner+K%22">Swanner K</searchLink>; Inozyme Pharma, Inc., Boston, MA 02210, United States.<br /><searchLink fieldCode="AU" term="%22Rutsch+F%22">Rutsch F</searchLink>; Department of General Pediatrics, Münster University Children's Hospital, 48149 Münster, Germany.
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  Data: <searchLink fieldCode="JN" term="%22101707013%22">JBMR plus</searchLink> [JBMR Plus] 2025 Jan 30; Vol. 9 (5), pp. ziaf019. <i>Date of Electronic Publication: </i>2025 Jan 30 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101707013 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2473-4039 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2224734039%22">24734039 </searchLink><i>NLM ISO Abbreviation: </i>JBMR Plus <i>Subsets: </i>PubMed not MEDLINE
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