Work

Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium‐Dependent Multivitamin Transporter Deficiency

Year: 2025

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.64014

Authors: Ameya S. Walimbe, Emily Waskow, Laura Mackay, Marcus Miller, Charul Gijavanekar, Charles R. Difalco, Sarah H. Elsea, Fernando Scaglia

Institutions: Baylor College of Medicine, Texas Children's Hospital, The University of Texas Southwestern Medical Center, Indiana University School of Medicine, Prince of Wales 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

OpenAlex ID: W4407103645

FWCI: 1.54

Cites: 25

Cited by: 3

Related to: 10