Work

eP008: Cystathionine beta synthase deficiency patients are being missed by newborn screening

Year: 2022

Type: article

Source: Genetics in Medicine

DOI: 10.1016/j.gim.2022.01.046

Authors: Kimberly Chapman, Danae Bartke, Margie McGlynn, Harvey Levy, Can Ficicioglu

Institutions: Children's National, Boston Children's Hospital, Children's Hospital of Philadelphia

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: bronze

OpenAlex ID: W4220781200

FWCI: 0.174

Cites:

Cited by: 1

Related to: 10