Xuefan Gu
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View article: Analysis of hydroxocobalamin dosage in patients with CblC deficiency
Analysis of hydroxocobalamin dosage in patients with CblC deficiency Open
View article: Effects of spirulina supplementation alone or with exercise on cardiometabolic health in overweight and obese adults: a systematic review and meta-analysis
Effects of spirulina supplementation alone or with exercise on cardiometabolic health in overweight and obese adults: a systematic review and meta-analysis Open
Purpose This systematic review and meta-analysis evaluates the effects of Spirulina supplementation, alone or combined with exercise, on body composition, lipid profiles, glycemic control, blood pressure, and cardiorespiratory health in ov…
View article: Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency
Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency Open
Background: Newborns are referred primary carnitine deficiency (PCD) when a low free carnitine (C0) concentration (<10 μmol/L) is detected, leading to high false-positive referrals. To improve the follow-up protocol for PCD, various acylca…
View article: Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency
Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency Open
Background: Newborns are referred primary carnitine deficiency (PCD) when a low free carnitine (C0) concentration (< 10 μmol/L) is detected, leading to high false positive referrals. To improve the follow-up protocol for PCD, various ac…
View article: Effects of Cordyceps militaris solid medium on the growth performance, immunity parameters and intestinal health of broilers
Effects of Cordyceps militaris solid medium on the growth performance, immunity parameters and intestinal health of broilers Open
Objective: This study aimed to investigate the impact of Cordyceps militaris solid medium (CMM) on the growth performance, immunity parameters, intestinal health and gut microbiota of broilers.Methods: A total of 320 male broilers were ran…
View article: Effect of soil-groundwater system on migration and transformation of organochlorine pesticides: A review
Effect of soil-groundwater system on migration and transformation of organochlorine pesticides: A review Open
Soil is the place where human beings, plants, and animals depend on for their survival and the link between the various ecological layers. Groundwater is an important component of water resources and is one of the most important sources of…
View article: The Impact of Growth Hormone Treatment on COVID-19 Susceptibility and Severity in Children with Short Stature: A Survey Study with Mendelian Randomization Analysis
The Impact of Growth Hormone Treatment on COVID-19 Susceptibility and Severity in Children with Short Stature: A Survey Study with Mendelian Randomization Analysis Open
GH treatment was associated with somewhat decreased COVID-19 susceptibility but was not statistically significant. Higher GH levels were causally associated with a significantly lower rate of COVID-19 susceptibility and hospitalization.
View article: A Phase 2 Study of PEGylated Recombinant Human Growth Hormone for 52 Weeks in Short Children Born Small for Gestational Age in China
A Phase 2 Study of PEGylated Recombinant Human Growth Hormone for 52 Weeks in Short Children Born Small for Gestational Age in China Open
Objective Children born small for gestational age (SGA) are at increased risk of health issues. This study evaluated the efficacy, safety and optimal dose of PEGylated‐recombinant human growth hormone (PEG‐rhGH) in these children. Design I…
View article: Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes
Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes Open
View article: Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China Open
Background Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type). Because no universal consensus was made on whether mut -t…
View article: Newborn Screening for 6 Lysosomal Storage Disorders in China
Newborn Screening for 6 Lysosomal Storage Disorders in China Open
Importance Newborn screening (NBS) for lysosomal storage disorders (LSDs) is becoming an increasing concern in public health. However, the birth prevalence of these disorders is rarely reported in the Chinese population, and subclinical fo…
View article: Fast Label‐Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes
Fast Label‐Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes Open
Phenylketonuria (PKU) is the most common inherited metabolic disease in humans. Clinical screening of newborn heel blood samples for PKU is costly and time‐consuming because it requires multiple procedures, like isotope labeling and deriva…
View article: Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from China
Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from China Open
Background Propionic acidemia (PA) is an inherited organic acid metabolic disease involving multiple physiological systems with variable manifestations. The causative genes,PCCAandPCCB, carry a wide range of mutations. The present study ai…
View article: Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort Open
Background The aim of this study was to characterize the variable phenotypes and outcomes associated with the methylmalonic aciduria and homocystinuria type C protein gene ( MMACHC ) c.482G > A mutation in 195 Chinese cases with CblC disea…
View article: Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China Open
Background Isolated methylmalonic acidemia, an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type). Because no universal consensus was made on whether mut-ty…
View article: Overall Survival Prediction in Stereotactic Radiosurgery Patients with Glioblastoma Via a Deep-Learning Approach
Overall Survival Prediction in Stereotactic Radiosurgery Patients with Glioblastoma Via a Deep-Learning Approach Open
View article: Late-onset cblC defect: clinical, biochemical and molecular analysis
Late-onset cblC defect: clinical, biochemical and molecular analysis Open
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: Late-onset cblC defect: clinical, biochemical and molecular analysis
Late-onset cblC defect: clinical, biochemical and molecular analysis Open
Background cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and eval…
View article: Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome
Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome Open
Background: Rubinstein-Taybi syndrome (RSTS) and Menke-Hennekam syndrome (MKHK) are two rare Mendelian disorders presented with variable degrees of intellectual disability and different facial dysmorphism. They are caused by loss-of-functi…
View article: Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency Open
View article: Long-term Pegylated GH for Children With GH Deficiency: A Large, Prospective, Real-world Study
Long-term Pegylated GH for Children With GH Deficiency: A Large, Prospective, Real-world Study Open
Context The evidence of long-term polyethylene glycol recombinant human GH (PEG-rhGH) in pediatric GH deficiency (GHD) is limited. Objective This study aimed to examine the effectiveness and safety of long-term PEG-rhGH in children with GH…
View article: Additional file 1 of Late-onset cblC defect: clinical, biochemical and molecular analysis
Additional file 1 of Late-onset cblC defect: clinical, biochemical and molecular analysis Open
Supplementary Material 1
View article: Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China Open
Background: Primary carnitine deficiency (PCD) is an autosomal recessive disease caused by mutations in the SLC22A5 gene, which encodes the organic cation transporter 2 (OCTN2). Patients with PCD may be at risk of skeletal or cardiac myopa…
View article: A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations Open
View article: Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches
Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches Open
Background: Isovaleric acidemia (IVA) is an inborn error of leucine metabolism and different approaches have been applied to its prenatal diagnosis. However, systemic application of a biochemical strategy is rare. To evaluate its reliabili…
View article: The follow-up of Chinese patients in mut-type methylmalonic acidemia identified through expanded newborn screening
The follow-up of Chinese patients in mut-type methylmalonic acidemia identified through expanded newborn screening Open
Background : Isolated methylmalonic acidemia (MMA), an autosomal recessive disorder of propionate metabolism, is usually caused by mutations in the methylmalonyl-CoA mutase gene (mut-type MMA). Because no universal consensus was made on wh…
View article: Supplementary data for "Analysis of Non-21α-hydroxylase-deficiency Primary Adrenal Insufficiency in Childhood: Data from 113 Chinese Patients"
Supplementary data for "Analysis of Non-21α-hydroxylase-deficiency Primary Adrenal Insufficiency in Childhood: Data from 113 Chinese Patients" Open
Supplementary data for "Analysis of Non-21α-hydroxylase-deficiency Primary Adrenal Insufficiency in Childhood: Data from 113 Chinese Patients" Supplementary Table 1 Causes of Primary Adrenal Insufficiency in Children
View article: Supplementary data for "Analysis of Non-21α-hydroxylase-deficiency Primary Adrenal Insufficiency in Childhood: Data from 113 Chinese Patients"
Supplementary data for "Analysis of Non-21α-hydroxylase-deficiency Primary Adrenal Insufficiency in Childhood: Data from 113 Chinese Patients" Open
Supplementary data for "Analysis of Non-21α-hydroxylase-deficiency Primary Adrenal Insufficiency in Childhood: Data from 113 Chinese Patients" Supplementary Table 1 Causes of Primary Adrenal Insufficiency in Children
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