Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive
disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes …

Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular
disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and …

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-
galactosidase A enzyme. Cardiovascular (CV) disease is a common cause of mortality in …

Approximately 10 miles separate the Horn of Africa from the Arabian Peninsula at Bab-el-
Mandeb (the Gate of Tears). Both historic and archaeological evidence indicate tight cultural …

Introduction Fabry disease (FD) is a lysosomal storage disorder resulting in progressive
nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or …

A maximum parsimony tree of 21 complete mitochondrial DNA (mtDNA) sequences
belonging to haplogroup X and the survey of the haplogroup-associated polymorphisms in …

Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by
autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13 …

Objective: Phenylketonuria (PKU) is due to an inability to metabolize the amino acid
phenylalanine (Phe), leading to its accumulation in the brain. Phe levels can be controlled …

Objective: Phenylketonuria (PKU) is an inherited metabolic disease which affects cognitive
functions due to an inability to metabolize phenylalanine which leads to the accumulation of …

Abstract Background Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal
recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to …