Publications by authors named "Li-Min Dou"
Objective: To report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry.
Methods: A 7 months old boy was admitted to our hospital for elevated transaminase levels lasting more than 1 month. His blood biochemistry showed hypoglycemia, metabolic acidosis, hyperlipidemia, elevated lactate and uric acid, elevated alanine amino transferase (ALT), aspartate amino transaminase (AST) and gamma-glutamyl transferase (GGT).
Maternal periconceptional folate status and infant atopic dermatitis: A prospective cohort study.
Pediatr Allergy Immunol
January 2021
Article Synopsis
- Maternal folate status in early pregnancy is linked to the risk of allergic disorders like atopic dermatitis (AD) in infants, but existing research is unclear.
- A study involving 458 mothers found that higher levels of red blood cell (RBC) folate increased the risk of early-onset AD in infants, with a significant association for RBC folate levels above 620 ng/mL.
- This research emphasizes the potential importance of managing folate levels during early pregnancy to potentially decrease the risk of AD in babies.
Background: Underlying causes in Chinese children with recurrent acute liver failure (RALF), including liver crises less than full acute liver failure, are incompletely understood. We sought to address this by searching for genes mutated in such children.
Methods: Five unrelated Chinese boys presenting between 2012 and 2015 with RALF of unexplained etiology were studied.
[Mutation analysis of FAH gene in patients with tyrosinemia type 1].
Zhonghua Er Ke Za Zhi
April 2013
Objective: To investigate the clinical features and mutations of the FAH gene.
Method: Clinical records of two cases were collected, and diagnosis was made according to the diagnostic criteria of the International Organization for Rare Disorders (NORD). Genomic DNA was extracted from peripheral blood leukocytes with QIAamp DNA Mini Kit.