Additional file 1 of Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report

Figshare 2026 Open access

Read full text
Authors: Gabriel M. Schacht, Miriam Elbracht, Anna‐Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, Martin Häusler
DOI: 10.6084/m9.figshare.31450567
Cited by: 0

Abstract

Additional file 1. Overview of cases with B-HMBS-V, there is a list of reported cases of B-HMBS-V with their respective characteristics

Fields of Study & Subjects

Metabolism and Genetic Disorders Porphyrin Metabolism and Disorders Neurological diseases and metabolism

Publication details

Journal / source
Figshare
Publication date
23 February 2026
Language
EN