Work

Comparison of profound biotinidase deficiency in children ascertained clinically and by newborn screening using a simple method of accurately determining residual biotinidase activity

Year: 1992

Type: article

Study design: Observational Study

Source: Biochemical Medicine and Metabolic Biology

DOI: 10.1016/0885-4505(92)90046-2

Authors: P.Suzanne Hart, Brian O. Barnstein, Julie R. Secor McVoy, Reuben Matalon, Barry Wolf

Institutions: Virginia Commonwealth University, Virginia Commonwealth University Medical Center, Miami Children's Hospital

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: March of Dimes Foundation, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G1421282756, G2130853150, CHARACTERIZATION OF BIOTINIDASE DEFICIENCY, RECYCLING DEFECTS OF COVALENTLY-BOUND VITAMINS

OpenAlex ID: W2120151590

FWCI: 0.278

Cites: 6

Cited by: 7

Related to: 10