Work

Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts

Year: 1985

Type: article

Study design: Observational Study

Source: Human Genetics

DOI: 10.1007/bf00293290

Authors: Godfried H. J. Boers, B. Fowler, Anthony G. H. Smals, Frans J. M. Trijbels, Annelies I. Leermakers, Wim J. Kleijer, P. W. C. Kloppenborg

Institutions: Radboud University Nijmegen, Radboud University Medical Center, Royal Manchester Children's Hospital, Erasmus University Rotterdam

Language: English

Topic: Folate and B Vitamins Research

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2066898518

FWCI: 2.789

Cites: 21

Cited by: 89

Related to: 10