Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)
Mucopolysaccharidosis VII (MPS VII; Sly syndrome) is an autosomal recessive disorder
caused by a deficiency of β‐glucuronidase (GUS, EC 3.2.1.31; GUSB). GUS is required to …
caused by a deficiency of β‐glucuronidase (GUS, EC 3.2.1.31; GUSB). GUS is required to …
Therapies for the bone in mucopolysaccharidoses
…, AM Montaño, H Yabe, A Tanaka, VC Dung… - Molecular genetics and …, 2015 - Elsevier
Patients with mucopolysaccharidoses (MPS) have accumulation of glycosaminoglycans in
multiple tissues which may cause coarse facial features, mental retardation, recurrent ear and …
multiple tissues which may cause coarse facial features, mental retardation, recurrent ear and …
Biodegradation of polyhydroxyalkanoates (PHAs) in tropical coastal waters and identification of PHA-degrading bacteria
TG Volova, AN Boyandin, AD Vasiliev… - … degradation and stability, 2010 - Elsevier
Biodegradability patterns of two PHAs: a polymer of 3-hydroxybutyric acid (3-PHB) and a
copolymer of 3-hydroxybutyric and 3-hydroxyvaleric acids (3-PHB/3-PHV) containing 11mol% …
copolymer of 3-hydroxybutyric and 3-hydroxyvaleric acids (3-PHB/3-PHV) containing 11mol% …
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S Eggers, S Sadedin, JA Van Den Bergen, G Robevska… - Genome biology, 2016 - Springer
Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult …
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult …
A fluorescence light-up Ag nanocluster probe that discriminates single-nucleotide variants by emission color
Rapid and precise screening of small genetic variations, such as single-nucleotide
polymorphisms (SNPs), among an individual’s genome is still an unmet challenge at point-of-care …
polymorphisms (SNPs), among an individual’s genome is still an unmet challenge at point-of-care …
[HTML][HTML] Detection of lipid and amphiphilic biomarkers for disease diagnostics
Rapid diagnosis is crucial to effectively treating any disease. Biological markers, or biomarkers,
have been widely used to diagnose a variety of infectious and non-infectious diseases. …
have been widely used to diagnose a variety of infectious and non-infectious diseases. …
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Methods Families underwent phenotyping for features of Noonan syndrome in children and
their parents. Two multiplex families underwent linkage analysis. Exome, genome, or …
their parents. Two multiplex families underwent linkage analysis. Exome, genome, or …
Xpert MTB/RIF Ultra versus Xpert MTB/RIF for the diagnosis of tuberculous meningitis: a prospective, randomised, diagnostic accuracy study
J Donovan, NH Phu, VTM Dung, TP Quang… - The Lancet infectious …, 2020 - thelancet.com
Background Xpert MTB/RIF Ultra (Xpert Ultra) might have higher sensitivity than its predecessor,
Xpert MTB/RIF (Xpert), but its role in tuberculous meningitis diagnosis is uncertain. We …
Xpert MTB/RIF (Xpert), but its role in tuberculous meningitis diagnosis is uncertain. We …
Point-of-care C-reactive protein testing to reduce inappropriate use of antibiotics for non-severe acute respiratory infections in Vietnamese primary health care: a …
Background Inappropriate antibiotic use for acute respiratory tract infections is common in
primary health care, but distinguishing serious from self-limiting infections is difficult, …
primary health care, but distinguishing serious from self-limiting infections is difficult, …
Superconducting Nd1−xEuxNiO2 thin films using in situ synthesis
We report on superconductivity in Nd 1−x Eu x NiO 2 using Eu as a 4f dopant of the parent
NdNiO 2 infinite-layer compound. We use an all–in situ molecular beam epitaxy reduction …
NdNiO 2 infinite-layer compound. We use an all–in situ molecular beam epitaxy reduction …