Research graph
References from Drug-resistant epilepsy in an autosomal recessive copper metabolism disorder from SLC33A1 mutation. Local targets link to admitted publications; unresolved targets remain external evidence.
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism
10.1007/s10545-005-0479-x · 2005 · External reference
Case report: Huppke–Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years
10.3389/fneur.2022.957794 · 2022 · External reference
Unresolved reference
External reference
Huppke–Brendel syndrome: novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine
2024 · External reference
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and Ceruloplasmin
10.1016/j.ajhg.2011.11.030 · 2012 · External reference
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes
10.1136/jmg.2007.052746 · 2007 · External reference
Pathophysiology and clinical features of Wilson disease
10.1023/b:mebr.0000043973.10494.85 · 2004 · External reference
Aceruloplasminemia: molecular characterization of this disorder of iron metabolism
10.1073/pnas.92.7.2539 · 1995 · External reference
Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1
10.1007/s11011-016-9854-6 · 2016 · External reference
Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency
10.1002/jimd.12549 · 2022 · External reference
Mechanistic insights into the acetyl-CoA recognition by SLC33A1
10.1038/s41421-025-00793-1 · 2025 · External reference
Acetyl-CoA flux regulates the proteome and acetyl-proteome to maintain intracellular metabolic crosstalk
10.1038/s41467-019-11945-9 · 2019 · External reference
Deficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancer
10.1523/jneurosci.0077-14.2014 · 2014 · External reference
Invasive neuromodulation for epilepsy: comparison of multiple approaches from a single center
10.1016/j.yebeh.2022.108951 · 2022 · External reference
Networks underlying paroxysmal fast activity and slow spike and wave in Lennox-Gastaut syndrome
10.1212/wnl.0b013e3182a08f6a · 2013 · External reference
