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Article
Open AccessPublisher Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
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Article
Author Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
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Article
Open AccessInterim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
Propionic acidaemia is a rare disorder caused by defects in the propionyl-coenzyme A carboxylase α or β (PCCA or PCCB) subunits that leads to an accumulation of toxic metabolites and to recurrent, life-threate...
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Article
Open AccessAssessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain a...
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Article
Open AccessEvidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells
Cellular homeostasis of creatine (CT), integral part of the energy buffering and transducing system connecting intracellular sites of ATP production and utilization, comprises of mechanisms that increase CT, i...
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Living Reference Work Entry In depth
Arginase Deficiency
Arginase deficiency is caused by biallelic pathogenic variants of ARG1 gene. Arginase 1 deficiency results in hepatic accumulation of intracellular arginine and release of excess arginine into the blood, which...
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Article
Open AccessHygro-mechanical short-term behaviour of selected coatings: experiments and material modelling on vapour permeability and mechanical properties
Many pieces of fine art are made of wood that has been treated with coatings. Since wood is a very hygroscopic material, the moisture content strongly influences the deformation of wooden parts. Coatings often...
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Chapter
Respiratory Gas Conditioning and Humidification
The term humidity describes the amount of water in a vaporous state contained in a gas. Under-humidification of inhaled medical gas mixtures may have adverse pulmonary and systemic effects. Standards on minimu...
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Chapter
Disorders of Creatine Metabolism
Reduced creatine levels in the brain and in body fluids/tissues are the common denominator of primary creatine disorders (cerebral creatine deficiency syndromes types 1–3: X-linked creatine transporter (CrT/SLC6A...
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Chapter and Conference Paper
A Concept for the Estimation of Displacement Fields in Flexible Wind Turbine Structures
The design of wind turbines is based on conservative load assumptions compared to the actual load conditions at the designated erection site. As a consequence, structural reserves are very likely at the end of...
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Chapter and Conference Paper
Utilization of Experimental Data in Elastic Multibody Simulation: Case Study on the Ampair 600 Turbine Blade
The development of detailed elastic multibody models is a standard practice for the transient analysis of complex mechanical and mechatronic systems. With the constant increase in complexity of modern engineer...
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Article
Open AccessUrine creatine metabolite panel as a screening test in neurodevelopmental disorders
Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.
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Article
Open AccessLong-term effects of medical management on growth and weight in individuals with urea cycle disorders
Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evid...
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Article
Sind Blackouts unvermeidbar? Energiewirtschaftliche Risiken und Chancen der Elektromobilität
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Article
Demystifying the Charging Challenge - A Driver for Convergence and New Business Opportunities
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Article
Open AccessEvaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims...
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Article
Open AccessReligious Values in Clinical Practice are Here to Stay
Research to date has shown that health professionals often practice according to personal values, including values based on faith, and that these values impact medicine in multiple ways. While some influence o...
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Article
Open AccessOutcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions....
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Chapter and Conference Paper
Investigation of a Model Update Technique for Flexible Multibody Simulation
In modern engineering applications, the build up of representative numerical models may be not feasible or involves considerable effort. As a result, the need for experimental investigation on the real structu...
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Chapter and Conference Paper
State Observation in Beam-Like Structures Under Unknown Excitation
Measuring and logging of fatigue loads is essential for individual life time estimations of dynamically loaded mechanical structures like operating wind turbines. A fundamental intermediate step is the accurat...
