Work

The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis

Year: 2021

Type: article

Study design: Case Report

Source: Journal of Pediatric Endocrinology and Metabolism

DOI: 10.1515/jpem-2021-0018

Authors: Enise Avci Durmusalioglu, Esra Isik, Durdugul Ayyildiz Emecen, Damla Goksen, Samim Ozen, Huseyin Onay, Melis Kose, Tahir Atik, Sukran Darcan, Ozgur Cogulu, Ferda Ozkinay

Institution: Ege University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W3140978969

FWCI: 0.282

Cites: 13

Cited by: 3

Related to: 10