Albert Z. Lim
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View article: TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study
TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study Open
Background Focal epilepsy is common in children and adults with mitochondrial disease. Seizures are often refractory to pharmacological treatment and, in this patient group, frequently evolve to refractory focal status epilepticus (also kn…
View article: Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease Open
BACKGROUNDMitochondrial diseases belong to the group of inborn errors of metabolism (IEM), with a prevalence of 1 in 2,000-5,000 individuals. They are the most common form of IEM, but, despite advances in next-generation sequencing technol…
View article: Broadening the Spectrum of <i>SLC22A5</i> Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus
Broadening the Spectrum of <i>SLC22A5</i> Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus Open
Primary carnitine deficiency (PCD) is caused by pathogenic variants of the SLC22A5 gene, which encodes a transmembrane protein that functions as a high affinity carnitine transporter. Carnitine is essential for the transport of acyl-CoA, p…
View article: Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression Open
Objective This observational cohort study aims to quantify disease burden over time, establish disease progression rates, and identify factors that may determine the disease course of Leigh syndrome. Methods Seventy‐two Leigh syndrome chil…
View article: Endocrine Manifestations and New Developments in Mitochondrial Disease
Endocrine Manifestations and New Developments in Mitochondrial Disease Open
Mitochondrial diseases are a group of common inherited diseases causing disruption of oxidative phosphorylation. Some patients with mitochondrial disease have endocrine manifestations, with diabetes mellitus being predominant but also incl…
View article: Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes Open
Background The spectrum of mitochondrial disease is genetically and phenotypically diverse, resulting from pathogenic variants in over 400 genes, with aerobic energy metabolism defects as a common denominator. Such heterogeneity poses a si…
View article: Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects
Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects Open
Objective Regular cardiac surveillance is advocated for patients with primary mitochondrial DNA disease. However, there is limited information to guide clinical practice in mitochondrial conditions caused by nuclear DNA defects. We sought …
View article: Current and Emerging Clinical Treatment in Mitochondrial Disease
Current and Emerging Clinical Treatment in Mitochondrial Disease Open
View article: A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features Open
View article: Resolving complexity in mitochondrial disease: Towards precision medicine
Resolving complexity in mitochondrial disease: Towards precision medicine Open
Mitochondrial diseases, caused by mutations in either the nuclear or mitochondrial genomes (mtDNA), are the most common form of inherited neurometabolic disorders. They are remarkably heterogeneous, both in their clinical presentation and …
View article: Pathogenic variants in <i>MT‐ATP6</i>: A United Kingdom–based mitochondrial disease cohort study
Pathogenic variants in <i>MT‐ATP6</i>: A United Kingdom–based mitochondrial disease cohort study Open
Distinct clinical syndromes have been associated with pathogenic MT‐ATP6 variants. In this cohort study, we identified 125 individuals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers. Thirty‐one indi…
View article: A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes Open