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Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.
Chunn, Lauren M; Bissonnette, Jeffrey; Heinrich, Stefanie V; Mercurio, Stephanie A; Kiel, Mark J; Rutsch, Frank; Ferreira, Carlos R.
Affiliation
  • Chunn LM; Genomenon, Inc., Ann Arbor, MI, 48109, USA.
  • Bissonnette J; Genomenon, Inc., Ann Arbor, MI, 48109, USA.
  • Heinrich SV; Genomenon, Inc., Ann Arbor, MI, 48109, USA.
  • Mercurio SA; Genomenon, Inc., Ann Arbor, MI, 48109, USA.
  • Kiel MJ; Genomenon, Inc., Ann Arbor, MI, 48109, USA. kiel@genomenon.com.
  • Rutsch F; Department of General Paediatrics, Muenster University Children's Hospital, Münster, Germany.
  • Ferreira CR; Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Orphanet J Rare Dis ; 17(1): 421, 2022 12 02.
Article in En | MEDLINE | ID: mdl-36461014
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Familial Hypophosphatemic Rickets / Rickets, Hypophosphatemic Type of study: Guideline / Prevalence_studies / Risk_factors_studies Limits: Animals / Female / Humans / Pregnancy Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2022 Document type: Article Affiliation country: United States
Fulltext
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Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Familial Hypophosphatemic Rickets / Rickets, Hypophosphatemic Type of study: Guideline / Prevalence_studies / Risk_factors_studies Limits: Animals / Female / Humans / Pregnancy Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2022 Document type: Article Affiliation country: United States