Background Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency,
leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic …

Background In X-linked adrenoleukodystrophy, mutations in ABCD1 lead to loss of function
of the ALD protein. Cerebral adrenoleukodystrophy is characterized by demyelination and …

Background Creatine transporter deficiency is a monogenic cause of X-linked intellectual
disability. Since its first description in 2001 several case reports have been published but an …

Isolated mitochondrial respiratory chain complex III deficiency has been described in a
heterogeneous group of clinical presentations in children and adults. It has been associated …

Background Pompe disease is a rare disorder characterised by progressive loss of muscle
and respiratory function due to acid α-glucosidase deficiency. Enzyme replacement therapy …

Purpose This paper aims to report collective information on safety and efficacy of
empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD …

Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically
characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism …

Two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have
cognitive impairment. This phase 2/3, randomized, controlled, open-label, multicenter study …

Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids
by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt …

Mutations in either the mitochondrial or nuclear genomes are associated with a diverse
group of human disorders characterized by impaired mitochondrial respiration. Within this …