Work

Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome

Year: 2013

Type: article

Study design: Observational Study

Source: European Journal of Pediatrics

DOI: 10.1007/s00431-012-1925-z

Authors: Anna V. Oláh, Gabriella P. Szabó, József Varga, Lídia Balogh, Györgyi Csábi, Violetta Csákváry, Wolfgang Erwa, István Balogh

Institutions: University of Debrecen, Semmelweis University, University of Pecs, Markusovszky Egyetemi Oktatókórház

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W1976959243

FWCI: 0.847

Cites: 44

Cited by: 22

Related to: 10