期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (2)
The dilated cardiomyopathy with ataxia syndrome (DCMA) is an autosomal recessive mitochondrial disease caused by mutations in the DnaJ heat shock prot......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (2)
Galactose mutarotase (GALM) deficiency (MIM# 618881), also known as type IV galactosemia, is caused by biallelic pathogenic variants of GALM. Cataract......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (2)
Background The metabolic defect in glycogen storage disease type I (GSDI) results in fasting hypoglycemia and typical secondary metabolic abnormalitie......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (5)
Living with an undiagnosed medical condition places a tremendous burden on patients, their families, and their healthcare providers. The Undiagnosed D......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (3)
Our objective was to investigate brain structure, cerebral vasculature, and cognitive function in a cohort of patients with late-onset Pompe disease, ......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (3)
Patients with glycogen storage disease type V (GSDV), also known as McArdle disease, have blocked glycogen breakdown due to myophosphorylase deficienc......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (4)
Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presentin......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (1)
Cardiolipin (CL) is the signature phospholipid (PL) of mitochondria and plays a pivotal role in mitochondrial and cellular function. Disruption of the......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (2)
Creatine (Cr) is a nitrogenous organic acid and plays roles such as fast phosphate energy buffer to replenish ATP, osmolyte, antioxidant, neuromodulat......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (3)
A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency (PCD) since its first description in 1973. Advances in diag......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (4)
MTHFR deficiency is a severe inborn error of metabolism leading to impairment of the remethylation of homocysteine to methionine. Neonatal and early-o......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (6)
Our aim was to study the effect of secondary carnitine deficiency (SCD) and carnitine supplementation on important outcome measures for persons with m......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (1)
Barth Syndrome is an X-linked disorder of mitochondrial cardiolipin metabolism caused by pathogenic variants in TAFAZZIN with pleiotropic effects incl......
