Results 71 to 80 of about 2,700,321 (328)
The Anatomical Record, EarlyView.Abstract Testudines are one of the best‐represented taxonomic groups among the Paleogene taxa of the Duero Basin (Castile and Leon Autonomous Community, central Spain). Among them, Neochelys (Podocnemidide) and Allaeochelys (Carettochelyidae) are most abundant, allowing the population to be assessed for osteological anomalies.
Andrea Guerrero +3 more
wiley +1 more source
Treatment of inborn errors of metabolism [PDF]
Molecular Cytogenetics, 2014 Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire +3 more sources
CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies
WIREs Mechanisms of Disease, Volume 15, Issue 1, January/February 2023., 2023 CRISPR‐Cas9 gene‐editing technology enables the rapid generation of animal models for Duchenne muscular dystrophy research and has potential to be developed as CRISPR therapy for the long lasting genetic correction of causal mutations. Abstract CRISPR gene‐editing technology creates precise and permanent modifications to DNA.
Yu C. J. Chey +4 more
wiley +1 more source
Journal of Pediatric Critical Care, 2020 The metabolic crisis due to inborn error of metabolism can present as an isolated entity or along with the underlying sepsis at any age in children. Here, we present 14 months old boy born of third-degree consanguinity, apparently healthy in the past ...
Ramaning Loni +4 more
doaj +1 more source
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, 2022 We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín‐Rivada +19 more
doaj +1 more source
Tandem Mass Neonatal Screening in Taiwan—Report from One Center
Journal of the Formosan Medical Association, 2006 Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified.
Hsiang-Po Huang +6 more
doaj +1 more source
Condução inicial de paciente com erro inato do metabolismo em hospital de pequeno porte [PDF]
Residência PediátricaPropionic acidemia is part of the organic acidemias that constitute a group of inherited autosomal recessive diseases caused by the deficiency of enzymes involved in the catabolism of branched-chain amino acids resulting in the tissue accumulation of one
Carla Diniz Dias Fernandes +5 more
doaj +1 more source
Genotype networks, innovation, and robustness in sulfur metabolism [PDF]
arXiv, 2010 Metabolic networks are complex systems that comprise hundreds of chemical reactions which synthesize biomass molecules from chemicals in an organism's environment. The metabolic network of any one organism is encoded by a metabolic genotype, defined by a set of enzyme-coding genes whose products catalyze the network's reactions. Each metabolic genotype
arxiv
Environmental and Molecular Mutagenesis, EarlyView.Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons +17 more
wiley +1 more source
Australian and New Zealand Journal of Public Health, Volume 46, Issue 6, Page 896-902, December 2022., 2022 Abstract Objective: To describe the characteristics and cost of health service use of a cohort of 2,140 people attending homeless hostel clinics, and identify predictors of high health service use and time to readmission. Method: A retrospective cohort study of 2,140 adults who attended a homeless hostel clinic and were hospitalised in New South Wales (
Rebecca J. Mitchell +5 more
wiley +1 more source