Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

Orphanet Journal of Rare Diseases

Research

Frank Rutsch¹  Mark J. Kiel²  Jeffrey Bissonnette²  Lauren M. Chunn²  Stephanie A. Mercurio²  Stefanie V. Heinrich²  Carlos R. Ferreira³ 

[1] Department of General Paediatrics, Muenster University Children’s Hospital, Münster, Germany;Genomenon, Inc., 48109, Ann Arbor, MI, USA;Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA;

关键词: ENPP1 deficiency;    Generalized arterial calcification of infancy (GACI);    Autosomal recessive hypophosphatemic rickets type 2 (ARHR2);    Population database;    Prevalence;   

DOI  :  10.1186/s13023-022-02577-2

 received in 2022-08-08, accepted in 2022-11-20,  发布年份 2022

来源: Springer

【 授权许可】

CC BY   
© The Author(s) 2022

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