Work

Identification of an unusual variant of Fanconi-Bickel syndrome presenting as proximal tubulopathy and short stature

Year: 2026

Type: article

Study design: Case Report

Source: BMJ Case Reports

DOI: 10.1136/bcr-2025-266997

Authors: Madalena Roque do Vale Afonso, Paula Nunes, André M Travessa

Institutions: Hospital of St. Francis Xavier, Hospital de Santa Maria

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: W7118406653

FWCI:

Cites: 11

Cited by:

Related to: