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Article
Open AccessLate-onset cblC defect: clinical, biochemical and molecular analysis
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 chara...
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Article
Synthesis of New Hydrazone Compounds from Natural Grease and Investigation as Flow Improver for Crude Oil
In this work, salicylaldehyde hydrazone (SAH), different from the traditional polymers, was synthesized from natural oils (castor, SAСH, rapeseed, SARH and soybean, SASH), hydrazine hydrate and salicylaldehyde. F...
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Article
Preparation of Sodium Oleate-Derived Multifunctional Surfactants by Hydroxymethylation
In this paper, sodium oleate (SO) was modified by the reaction with formaldehyde by hydroxymethylation to prepare SO-1, SO-2, SO-3 and SO-4. The products were characterized by Thermogravimetric analysis (TGA),...
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Article
Open AccessClinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
This study aimed to describe the clinical, biochemical, and molecular characteristics of Chinese patients with holocarboxylase synthetase (HLCS) deficiency, and to investigate the mutation spectrum of HCLS def...
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Article
Gene expression profiles in the brain of phenylketonuria mouse model reversed by the low phenylalanine diet therapy
To gain insight into the potential protective mechanisms of low phenylalanine diet (LPD) in phenylketonuria (PKU), gene expression profiles were studied in the cerebral cortex and hippocampus of a PKU mouse mo...
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Article
Open AccessValue of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type
Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis....
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Article
Open AccessA rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, ...
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Article
Open AccessClinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential c...
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Article
Open AccessBiochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies
Propionic acidemia (PA) is a serious metabolic disorder, and different approaches have been applied to its prenatal diagnosis. To evaluate the reliability and validity of a biochemical strategy in the prenatal...
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Article
Open AccessX-ray induced photodynamic therapy (PDT) with a mitochondria-targeted liposome delivery system
In this study, we constructed multifunctional liposomes with preferentially mitochondria-targeted feature and gold nanoparticles-assisted synergistic photodynamic therapy. We systemically investigated the in v...
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Article
Open AccessNovel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports
PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is main...
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Article
Performance and Mechanism of Span Surfactants as Clean Flow Improvers for Crude Oil
In this work, Span 60 and Span 80, two representatives of nonionic surfactants, were evaluated as clean flow improvers for crude oil. The results show that both of these two nonionic surfactants can improve th...
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Article
Addition Reaction of Benzaldehydes and Chloroform Catalyzed by Modified Calcium Oxide
The addition reaction between p-nitrobenzaldehyde and chloroform is efficiently catalyzed by commercial CaO modified with benzyl bromide in a simple way. The modified CaO catalyst displays good water resistance. ...
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Article
Open AccessIdentification of RUNX2 variants associated with cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder mainly characterized by hypoplastic or absent clavicles, delayed closure of the fontanelles, multiple dental abnormalities, and short stature...
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Article
Synthesis and Investigation of a Spiro Diborate as a Clean Viscosity-Reducer and Pour Point Depressor for Crude Oil
In this work, a spiro diborate (SDB), different from the traditional polymers, was synthesized from glycerol monolaurate and boric acid, and was evaluated as viscosity-reducer and pour point depressor for crud...
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Article
Open AccessCharacteristics of Pompe disease in China: a report from the Pompe registry
Pompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. This is the first report of Chinese patients from the global Pompe Regis...
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Article
Preparation and Performance of Vegetable Oils Fatty Acids Hydroxylmethyl Triamides as Crude Oil Flow Improvers
In this work, a series of hydroxylmethyl triamide (HMTA) was synthesized from vegetable oil, diethylenetriamine were and hexamethylenetetramine, which was evaluated as a crude oil flow improver. The results sh...
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Article
Open AccessChromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
Developmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier te...
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Article
Structure, Anticorrosion and Antibacterial Evaluation of (E)-3-(N-Oxide-methylimino)indolin-2-one
A nitrone, (E)-3-(N-oxide-methylimino)indolin-2-one, was synthesized and analyzed by X-ray single crystal analysis. The inhibition and the mechanism of action of the title compound on the corrosion of high protec...
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Article
Zn(II) Complex Catalyzed Coupling Aquathermolysis of Water-Heavy Oil-Methanol at Low Temperature
A Zn(II) coordination complex was synthesized, characterized, and used for catalytic aquathermolysis of heavy oil at low temperatures for the first time. The effects of water content and catalyst concentration...
