C. Bursle

Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis.

G. Gole, D. Mackey, L. Kearns, 2018, JIMD reports.

DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.

J. Cardinal, F. Connor, D. Coman, 2016, JIMD reports.

COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis.

J. Cardinal, B. Lewis, R. Justo, 2017, JIMD reports.

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

A. Vanderver, C. Stutterd, J. Freeman, 2019, JIMD reports.

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

D. Coman, A. Selvanathan, Aoife Elliott, 2022, JIMD Reports.

Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.

J. Cardinal, R. Justo, R. Weintraub, 2017, JIMD reports.