Abstract The NAD (P) HX repair system is a metabolite damage repair mechanism
responsible for restoration of NADH and NADPH after their inactivation by hydration …

The central cofactors NAD (P) H are prone to damage by hydration, resulting in formation of
redox‐inactive derivatives designated NAD (P) HX. The highly conserved enzymes NAD (P) …

Background Early-onset progressive encephalopathy with brain edema and/or
leukoencephalopathy (PEBEL-1) is an autosomal recessive disorder whereby a fluctuating …

Repeat expansions cause at least 50 hereditary disorders, including Friedreich ataxia and
other diseases known to cause mitochondrial dysfunction. We identified a patient with NAXE …

Glaucoma is a group of ocular diseases that cause irreversible blindness. It is characterized
by multifactorial degeneration of the optic nerve axons and retinal ganglion cells (RGCs) …

Background Giant axonal neuropathy (GAN) is a progressive childhood hereditary
polyneuropathy that affects both the peripheral and central nervous systems. Disease …

Background 3MC syndrome type 3 is an autosomal recessive disorder caused by mutations
in the COLEC10 gene besides other genes like COLEC11 and MASP1. This disorder is …

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is now increasingly
identified from all countries over the world, possibly rendering it one of the most common …

Autosomal recessive microcephaly is a rare clinical condition, which is characterized by
reduced brain size that can be associated with delayed intellectual ability, developmental …

Guanidinoacetate methyltransferase deficiency (GAMTD) is a treatable neurodevelopmental
disorder with normal or nonspecific imaging findings. Here, we reported a 14-month-old girl …