Wenjuan Qiu
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View article: Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China
Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China Open
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: Ferroptosis and protein translation: emerging perspectives in the research of myocardial infraction
Ferroptosis and protein translation: emerging perspectives in the research of myocardial infraction Open
Myocardial infarction, as the principal type of ischemic heart disease, has currently become the focus of research on its prevention and treatment strategies. From the perspective of myocardial infarction pathogenesis, it is urgent to impe…
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: 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: Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency
Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency Open
The clinical phenotypes of CPT2 deficiency are diverse. An early diagnosis can be facilitated by neonatal blood tandem mass spectrometry screening and genetic testing, and most patients have good prognosis after a timely diagnosis and trea…
View article: Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome
Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome Open
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: Mechanism of Solid Electrolyte Interphase Film Formation Using Ec-Based Local High Concentration Electrolytes in Sodium-Ion Batteries
Mechanism of Solid Electrolyte Interphase Film Formation Using Ec-Based Local High Concentration Electrolytes in Sodium-Ion Batteries Open
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: Clinical, genetic profile and therapy evaluation of 11 Chinese paediatric patients with Fanconi-Bickel syndrome
Clinical, genetic profile and therapy evaluation of 11 Chinese paediatric patients with Fanconi-Bickel syndrome Open
Background: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction. Reported FBS data from China are scarce. Methods: C…
View article: Late-onset cblC defect: clinical, biochemical and molecular analysis
Late-onset cblC defect: clinical, biochemical and molecular analysis Open
View article: Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita Open
Background X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization. Methods The clinical…
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: 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: Deciphering the Causal Relationship between Early-Life Growth and Puberty Timing: A Mendelian Randomisation Study
Deciphering the Causal Relationship between Early-Life Growth and Puberty Timing: A Mendelian Randomisation Study Open
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: A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency Open
Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by glucocorticoid deficiency without mineralocorticoid deficiency. We report 3 Chinese patients with MRAP or MC2R mutations. Case Repo…
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: A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease
A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease Open
Background: A high prevalence of infantile-onset Pompe disease (IOPD) in the Chinese population has been noted, but there are currently no reported clinical trials of enzyme replacement therapy (ERT) for IOPD in this population . The purpo…
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: The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening
The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening Open
Objective: The cblC type of combined methylmalonic acidemia and homocystinuria, an inherited disorder with variable phenotypes, is included in newborn screening (NBS) programs at multiple newborn screening centers in China. The present stu…
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 reliabilit…