Yonglan Huang
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View article: Optimization of the Performance of Newborn Screening for X-Linked Adrenoleukodystrophy by Flow Injection Analysis Tandem Mass Spectrometry
Optimization of the Performance of Newborn Screening for X-Linked Adrenoleukodystrophy by Flow Injection Analysis Tandem Mass Spectrometry Open
The aim of this study was to improve screening efficiency by establishing reasonable interpretation criteria for the use of flow injection analysis tandem mass spectrometry (FIA-MS/MS) in newborn screening (NBS) for X-linked adrenoleukodys…
View article: Nanomaterials for the Treatment of Contamination by Nosocomial Pathogens in Intensive Care Units
Nanomaterials for the Treatment of Contamination by Nosocomial Pathogens in Intensive Care Units Open
Healthcare systems worldwide face a significant challenge from nosocomial infections. These infections are associated with increased rates of disease, mortality, and healthcare expenses. Common issues with traditional treatment approaches …
View article: Efficacy and safety of ruxolitinib combined with steroids for first-line treatment of acute graft-versus-host disease after hematopoietic stem cell transplantation: a single-center, real-world experience
Efficacy and safety of ruxolitinib combined with steroids for first-line treatment of acute graft-versus-host disease after hematopoietic stem cell transplantation: a single-center, real-world experience Open
Introduction Despite the increasing use of allogeneic hematopoietic stem cell transplantation (allo-HSCT), graft-versus-host disease (GVHD) remains the main cause of morbidity and mortality, significantly impacting HSCT outcomes. Steroids …
View article: Synergistic Effects of Alkali Activator Dosage on Carbonation Resistance and Microstructural Evolution of Recycled Concrete: Insights from Fractal Analysis and Optimal Threshold Identification
Synergistic Effects of Alkali Activator Dosage on Carbonation Resistance and Microstructural Evolution of Recycled Concrete: Insights from Fractal Analysis and Optimal Threshold Identification Open
The synergistic mechanism between alkali activation and carbonation in fly ash recycled aggregate concrete (FRAC) remains a critical challenge for enhancing durability and promoting solid waste utilization. This study systematically invest…
View article: Recent progress in the identification and in vitro culture of skin organoids
Recent progress in the identification and in vitro culture of skin organoids Open
View article: Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life Open
Background Allogeneic hematopoietic stem cell transplantation (HSCT) has proven to be a viable treatment option for patients with mucopolysaccharidoses (MPS). We investigate the efficacy and improvements in the quality of life of HSCT in p…
View article: Transcutaneous auricular vagus nerve stimulation improves cortical functional topological properties and intracortical facilitation in patients with Parkinson’s disease
Transcutaneous auricular vagus nerve stimulation improves cortical functional topological properties and intracortical facilitation in patients with Parkinson’s disease Open
View article: Towards an Implantable Aptamer Biosensor for Monitoring in Inflammatory Bowel Disease
Towards an Implantable Aptamer Biosensor for Monitoring in Inflammatory Bowel Disease Open
View article: Spatial and Temporal Evolution of Urban Patent Quality: Evidence From China Prefectural Cities
Spatial and Temporal Evolution of Urban Patent Quality: Evidence From China Prefectural Cities Open
We develop a comprehensive patent quality index and analyze the spatial and temporal change of urban patent quality in China over the period 2001 to 2019. We focus on three critical dimensions of patent quality: technical, legal, and econo…
View article: Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta
Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta Open
Our study expands the spectrum of GNPTAB gene in China. Mutation c.2715 + 1G > A was the most prevalent mutation in our study. The novel mutation c.1284 + 1G > A might be a severe mutation associated with ML II.
View article: Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China
Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China Open
Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the m…
View article: Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening
Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening Open
Background and aims Newborn screening (NBS) for glucose-6-phosphate dehydrogenase (G6PD) deficiency by biochemical tests is being used worldwide, however, the outcomes arising from combined genetic and biochemical tests have not been evalu…
View article: Newborn Genomic Screening Detects Chromosomal Aneuploidies
Newborn Genomic Screening Detects Chromosomal Aneuploidies Open
The application of next-generation sequencing (NGS) technology is increasingly used in newborn screening (NBS) to detect monogenic disorders. However, its capability to identify chromosomal aneuploidies and its potential clinical value hav…
View article: Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model
Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model Open
GM1 gangliosidosis is a lysosomal storage disorder characterized by the accumulation of GM1 ganglioside, leading to severe neurodegeneration and early mortality. The disease primarily affects the central nervous system, causing progressive…
View article: Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study Open
Background Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism. MMA patients show diverse clinical and gene…
View article: Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry
Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry Open
The aim of this study was to observe the outcomes of newborn screening (NBS) in a certain population by using next-generation sequencing (NGS) as a first-tier screening test combined with tandem mass spectrometry (MS/MS). We performed a mu…
View article: Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China Open
The study's patients all presented with classic symptoms of MPS VII due to β-glucuronidase deficiency, with three new pathogenic mutations identified in the GUSB gene. Genetic counseling and prenatal testing were highlighted as crucial for…
View article: Molecular Epidemiological Characteristics and Variant Spectrum of G6PD Deficiency in China: A Population-Based Multicenter Study of Newborn Screening
Molecular Epidemiological Characteristics and Variant Spectrum of G6PD Deficiency in China: A Population-Based Multicenter Study of Newborn Screening Open
View article: Histidine triad nucleotide-binding protein 2 deficiency induce myocardial glucose utilization disorder in mice
Histidine triad nucleotide-binding protein 2 deficiency induce myocardial glucose utilization disorder in mice Open
Introduction Histidine triad nucleotide-binding protein 2 (HINT2) has been shown to be benefit to energy metabolism after myocardial infarction. However, the exact mechanism of HINT2 in myocardial metabolism remains unclear. Purpose To exp…
View article: Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening Open
Importance Newborn screening via biochemical tests is in use worldwide. The availability of genetic sequencing has allowed rapid screening for a substantial number of monogenic disorders. However, the outcomes of this strategy have not bee…
View article: Atypical phenotypes and novel OCRL variations in Southern Chinese patients with Lowe syndrome
Atypical phenotypes and novel OCRL variations in Southern Chinese patients with Lowe syndrome Open
Background: Lowe syndrome is an uncommon genetic disorder that follows an X-linked recessive inheritance pattern. It is defined by the occurrence of congenital cataracts, psychomotor retardation, and dysfunctional proximal renal tubules. T…
View article: A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou
A pilot study of newborn screening for Duchenne muscular dystrophy in Guangzhou Open
View article: Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening
Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening Open
False negative results on neonatal screening for CH often occurs in preterm birth, low birth weight, same-sex twins, family history of hypothyroidism, and DUOX2 defects are the common molecular pathogenesis, most of whom are transie…
View article: A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants Open
Background Pathogenic mutations in the PHKG2 are associated with a very rare disease—glycogen storage disease IXc (GSD-IXc)—and are characterized by severe liver disease. Case presentation Here, we report a patient with jaundice, hypoglyca…
View article: Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children
Assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children Open
View article: Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts
Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts Open
View article: Assessment of Diagnostic Value of Serum Ceruloplasmin for Wilson’s Disease in Children
Assessment of Diagnostic Value of Serum Ceruloplasmin for Wilson’s Disease in Children Open
Background: Serum ceruloplasmin is one of the major diagnostic parameters for Wilson’s disease (WD). Age and gender difference of serum ceruloplasmin remain controversy. This study aims to assess diagnostic value of serum ceruloplasmin for…
View article: Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou
Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou Open
To analyze the screening results for inherited metabolic disorders (IMD) in newborns by tandem mass spectrometry (MS/MS) in Guangzhou.A total of 272 117 newborns in Guangzhou from Jan 2015 to Dec 2020 were screened for IMD by MS/MS in Guan…
View article: A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy
A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy Open
GM1 gangliosidosis is a rare lysosomal storage disease caused by a deficiency of β-galactosidase due to mutations in the GLB1 gene. We established a C57BL/6 mouse model with Glb1 G455R mutation using CRISPR/Cas9 genome editing. The β-galac…
View article: Profiles of Amino Acids and Acylcarnitines Related with Deltamethrin Resistance in Aedes Albopictus
Profiles of Amino Acids and Acylcarnitines Related with Deltamethrin Resistance in Aedes Albopictus Open
Background: Fast emerging and increasing insecticide resistance in Asian tiger mosquito, Aedes albopictus brings alarm to the dengue epidemic over the world. The genetic and transcriptional sequencing has greatly advanced our understanding…