Work

A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency

Year: 2003

Type: article

Study design: Case Report

Source: European Journal of Pediatrics

DOI: 10.1007/s00431-003-1171-5

Authors: Toshihiro Ohura, Keiko Kobayashi, Daiki Abukawa, Yusaku Tazawa, Jun-ichiro Aikawa, Osamu Sakamoto, Takeyori Saheki, Kazuie Iinuma

Institutions: Tohoku University, Kagoshima University, South Miyagi Medical Center

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: closed

OpenAlex ID: W58280487

FWCI: 2.46

Cites: 16

Cited by: 47

Related to: 10