Work

Thiamine responsive MSUD due to splice altering variants: Confounding the genotype phenotype correlation

Year: 2024

Type: article

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2024.108183

Authors: Charles Billington, Erin MacLeod, Jenny Jacobson, Kara Simpson, Nicholas Ah. Mew, Christina Grant, Seth Berger

Institutions: University of Minnesota, Children's National, Fairview Health Services

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

OpenAlex ID: W4393926168

FWCI:

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