Work

Milder clinical and biochemical phenotypes associated with the c.482G > A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening

Year: 2017

Type: article

Study design: Observational Study

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2017.06.011

Authors: Mohammed Almannai, Ronit Marom, Kristian Divin, Fernando Scaglia, V. Reid Sutton, William J. Craigen, Brendan Lee, Lindsay C. Burrage, Brett H. Graham

Institutions: Baylor College of Medicine, Texas 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: green

Funders: National Institutes of Health, National Institute of General Medical Sciences, National Institute of Diabetes and Digestive and Kidney Diseases

Awards: G1010361722, G2609925829, G9000057486, G9000219908

OpenAlex ID: W2727569265

FWCI: 1.312

Cites: 42

Cited by: 30

Related to: 10