Conference
Long-Term Follow-up for Patients with Mitochondrial Carbonic Anhydrase 5A Deficiency
Abstract
Introduction: Mitochondria carbonic anhydrase 5A (CA5A) deficiency (MIM # 615751) is an
ultra-rare inherited metabolic disorder caused by biallelic mutations in CA5A gene. The
Authors
Shurrab S; Horvath G; Stockler_Ispiroglu S; Salvarinova Zivkovic R; van Karnebeek C
Pagination
pp. 301-301
Publisher
Journal of Inherited Metabolic Disease
Publication Date
November 1, 2021
DOI
10.1002/jimd.12458
Name of conference
International Congress of Inherited Metabolic Diseases
Conference place
Sydney, Australia
Conference start date
November 21, 2021
Conference end date
November 23, 2021
Issue
44
ISSN
0141-8955