Search Results - "Lulu, Kang"
-
1
Predicting influent biochemical oxygen demand: Balancing energy demand and risk management
Published in Water research (Oxford) (01-01-2018)“…Ready access to comprehensive influent information can help water reclamation plant (WRP) operators implement better real-time process controls, provide…”
Get full text
Journal Article -
2
Successful newborn screening for Gaucher disease using fluorometric assay in China
Published in Journal of human genetics (01-08-2017)“…Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte-macrophage cells, which can…”
Get full text
Journal Article -
3
The Deficiency of SCARB2/LIMP-2 Impairs Metabolism via Disrupted mTORC1-Dependent Mitochondrial OXPHOS
Published in International journal of molecular sciences (03-08-2022)“…Deficiency in scavenger receptor class B, member 2 (SCARB2) is related to both Gaucher disease (GD) and Parkinson's disease (PD), which are both…”
Get full text
Journal Article -
4
Blocking Caspase-1/Gsdmd and Caspase-3/-8/Gsdme pyroptotic pathways rescues silicosis in mice
Published in PLoS genetics (02-12-2022)“…Millions of patients suffer from silicosis, but it remains an uncurable disease due to its unclear pathogenic mechanisms. Though the Nlrp3 inflammasome is…”
Get full text
Journal Article -
5
LncRNA GAS5/miR-137 Is a Hypoxia-Responsive Axis Involved in Cardiac Arrest and Cardiopulmonary Cerebral Resuscitation
Published in Frontiers in immunology (11-01-2022)“…Cardiac arrest/cardiopulmonary resuscitation (CA/CPR) represents one of the devastating medical emergencies and is associated with high mortality and…”
Get full text
Journal Article -
6
Blocking Caspase-1/Gsdmd and Caspase-3/-8/Gsdme pyroptotic pathways rescues silicosis in mice
Published in PLoS genetics (01-12-2022)“…Millions of patients suffer from silicosis, but it remains an uncurable disease due to its unclear pathogenic mechanisms. Though the Nlrp3 inflammasome is…”
Get full text
Journal Article -
7
Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage
Published in BMC pediatrics (07-11-2024)“…Background and objectives Methionine adenosyltransferase I/III deficiency used to be considered a relatively benign disease. This study aims to elucidate the…”
Get full text
Journal Article -
8
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria
Published in PloS one (31-03-2022)“…Methylmalonic aciduria (MMA), a rare inherited disorder, is the most common organic aciduria in China, and prenatal diagnosis has contributed to its…”
Get full text
Journal Article -
9
Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital
Published in Orphanet journal of rare diseases (24-03-2022)“…Propionic acidemia is a severe inherited metabolic disorder, caused by the deficiency of propionyl-CoA carboxylase which encoded by the PCCA and PCCB genes…”
Get full text
Journal Article -
10
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
Published in Orphanet journal of rare diseases (02-09-2022)“…Abstract Background cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms…”
Get full text
Journal Article -
11
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
Published in Orphanet journal of rare diseases (03-08-2020)“…Cobalamin C deficiency (cblC) caused by the MMACHC mutations is the most common type of the disorders of intracellular cobalamin metabolism. While the c.609G >…”
Get full text
Journal Article -
12
Covariate balancing based on kernel density estimates for controlled experiments
Published in Statistical theory and related fields (03-04-2021)“…Controlled experiments are widely used in many applications to investigate the causal relationship between input factors and experimental outcomes. A…”
Get full text
Journal Article -
13
The effect of tacrolimus-containing polyethylene glycol-modified maghemite nanospheres on reducing oxidative stress and accelerating the healing spinal cord injury of rats based on increasing M2 macrophages
Published in Arabian journal of chemistry (01-01-2022)“…One of the key factors in repairing spinal cord injury is reducing inflammation and oxidative stress. So, it was tried to increase the growth of neurons more…”
Get full text
Journal Article -
14
The utility of methylmalonic acid, methylcitrate acid, and homocysteine in dried blood spots for therapeutic monitoring of three inherited metabolic diseases
Published in Frontiers in nutrition (Lausanne) (20-06-2024)“…Routine metabolic assessments for methylmalonic acidemia (MMA), propionic acidemia (PA), and homocysteinemia involve detecting metabolites in dried blood spots…”
Get full text
Journal Article -
15
Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations
Published in Journal of human genetics (01-04-2019)“…Cobalamin G (cblG) and cobalamin J (cblJ) defects are rare disorders of cbl metabolism caused by MTR and ABCD4 mutations, respectively. Patients with atypical…”
Get full text
Journal Article -
16
Mutation Hot Spot Region in the HOGA1 Gene Associated with Primary Hyperoxaluria Type 3 in the Chinese Population
Published in Kidney & blood pressure research (01-08-2019)“…Background: Primary hyperoxaluria type 3 (PH3) is a rare autosomal recessive disorder that affects glyoxylate metabolism. PH3 is caused by defects in…”
Get full text
Journal Article -
17
Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease
Published in Brain & development (Tokyo. 1979) (01-11-2018)“…Gaucher disease (GD) is one of the most common lysosomal storage diseases resulting from a deficiency of glucocerebrosidase. Three main types have been…”
Get full text
Journal Article -
18
Mutations of MACF1 , Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy
Published in Frontiers in neurology (15-01-2020)“…As a member of spectraplakin family of cytoskeletal crosslinking proteins, microtubule-actin crosslinking factor 1 (MACF1) controls cytoskeleton network…”
Get full text
Journal Article -
19
Stochastic coordinate-exchange optimal designs with complex constraints
Published in Quality engineering (03-07-2019)“…The paper provides a method to construct the exact optimal experimental designs for both physical and computer experiments with any regular or irregularly…”
Get full text
Journal Article -
20
Locally Optimal Design for A/B Tests in the Presence of Covariates and Network Dependence
Published in Technometrics (03-07-2022)“…A/B test, a simple type of controlled experiment, refers to the statistical procedure of experimenting to compare two treatments applied to test subjects. For…”
Get full text
Journal Article