Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the
CFTR gene, with various clinical manifestations that affect pulmonary, digestive, exocrine …

Abstract Glutaric aciduria type 1 (GA1) is a rare neurometabolic disease caused by
pathogenic variants in the gene encoding the enzyme glutaryl‐CoA dehydrogenase …

Abstract Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited
congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 …

The G2019S substitution in the Leucine-rich repeat kinase 2 (LRRK2) is significantly
associated with Parkinson's disease (PD). This substitution was identified in both familial …

Blau syndrome (BS), which affects the eyes, skin, and joints, is an autosomal dominant
genetic inflammatory disorder. BS is caused by mutations in the NOD2 gene. However, there …

Peroxisome proliferator‐activated receptor‐gamma coactivator 1‐alpha (PPARGC1A)
regulates the expression of energy metabolism's genes and mitochondrial biogenesis. The …

Purpose To characterize the phenotypic and genotypic variations associated with Glutaric
aciduria type 1 (GA1) in Chinese patients. Methods We analyzed the clinical …

Abstract X-linked Charcot-Marie-Tooth type 1 X (CMTX1) disease is a subtype of Charcot-
Marie-Tooth (CMT), which is mainly caused by mutations in the GJB1 gene. It is also known …

The nucleotide salvage pathway is used to recycle degraded nucleotides (purines and
pyrimidines); one of the enzymes that helps to recycle purines is hypoxanthine guanine …

Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe,
progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in …