Work

Detection of Neonatal Carnitine Palmitoyltransferase II Deficiency by Expanded Newborn Screening With Tandem Mass Spectrometry

Year: 2001

Type: article

Study design: Case Report

Source: PEDIATRICS

DOI: 10.1542/peds.107.6.e103

Authors: Simone Albers, Deborah Marsden, Elizabeth Quackenbush, Ann R. Stark, Harvey L. Levy, Mira Irons

Institutions: Boston Children's Hospital, Harvard University, University of Massachusetts Chan Medical School

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

Funders: U.S. Public Health Service, National Human Genome Research Institute

Awards: G5148581771, G7974399321

OpenAlex ID: W2110793720

FWCI: 2.963

Cites: 16

Cited by: 53

Related to: 10