Work

Molybdenum Cofactor Deficiency with a Novel Pathogenic Variant in the Molybdenum Cofactor Synthesis 1 (MOCS1): A Case Report

Year: 2024

Type: article

Study design: Case Report

Source: Journal of Neonatology

DOI: 10.1177/09732179241302949

Authors: Premadasa MGTW, Monica AH, Emmett E, Rathnayake P, Fernando PMS, Jayasena S, Basnayaka S, Jasinge E

Institutions: St Thomas' Hospital, Lady Ridgeway Hospital for Children

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: W4405546437

FWCI: 0.237

Cites: 5

Cited by: 1

Related to: 10