期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (6)
TRIT1 defect is a rare, autosomal-recessive disorder of transcription, initially described as a condition with developmental delay, myoclonic seizures......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (3)
Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive disorder resulting from the deficiency of N-acetylgalactosamine-6-sulfate sulfa......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2022; 45 (2)
Pyruvate, the end product of glycolysis, is a key metabolic molecule enabling mitochondrial adenosine triphosphate synthesis and takes part in multipl......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2021; 44 (4)
Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long-chain fatty-acid transport. Most ......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, ; ()
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common form of lipid storage myopathy. The disease is mainly caused by mutati......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2020; 43 (3)
To evaluate the feasibility of incorporating genetic screening for neonatal intrahepatic cholestasis, caused by citrin deficiency (NICCD), into the cu......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2020; 43 (3)
Methylmalonic acidemia (MMA) is the most common organic acidemia in China. This study aimed to characterise the genotypic and phenotypic variabilities......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2018; 41 (4)
Phenylketonuria (PKU), one of the most prevalent autosomal recessive disorders of amino acid metabolism, is characterized by abnormal accumulation of ......
期刊： JOURNAL OF INHERITED METABOLIC DISEASE, 2017; 40 (3)
Background Phenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity......
