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background following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. the spectrum of clinical presentation of rare inherited metabolic diseases (imds) is broad and ranges from single organ involvement to multisystemic diseases. with the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for imds that fully meets the requirements of the european infrastructure for rare diseases (erdri). results in collaboration with the european reference network for rare hereditary metabolic disorders (metabern), the unified european registry for inherited metabolic diseases (u-imd) was established to collect patient data as an observational, non-interventional natural history study. following the recommendations of the erdri the u-imd registry uses common data elements to define the imds, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. until today, more than 1100 imd patients have been registered. conclusion the u-imd registry is the first observational, non-interventional patient registry that encompasses all known imds. full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in u-imd and in the patient registry of the european rare kidney disease reference network (erknet). in conclusion, the u-imd registry will contribute to a better understanding of the long-term course of imds and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.
are you looking for the best ecommerce fulfillment companies in 2024? this guide will help you choose the right provider for your business. it covers factors to consider when choosing a fulfillment provider, the difference between a warehouse and a fulfillment center, and the ecommerce fulfillment process. you'll also learn about various types of fulfillment services and which ones are right for your business.
national portal of india provides a single-window access to information and services that are electronically delivered from all government departments, institutions and organizations. it has been a popular source of information to a wide range of stakeholders - from citizens, to government, business and indian diasporas. it is a gateway to access indian government websites at centre, state and district levels.
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imd has finalised durga hill in nigdi area of pimpri-chinchwad for setting up its x-band doppler weather radar for pune district
following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. the spectrum of clinical presentation of rare inherited metabolic diseases (imds) is broad and ...
with the new insurance distribution directive (idd) the eu seeks to further harmonise rules on the sale of insurance in the single market. the directive creates a common framework for all types of insurance sales and has been implemented throughout most of europe. norway is lagging behind, but its implementation should be expected in the near future.
this week at the olympic museum... 26.02-05.03.2007
bahrain, 25 march 2019 – investcorp, a leading global provider and manager of alternative investment products, organized the 2019 edition […]
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almost three years ago, harvard business review published a provocative article entitled ‘the death of supply chain management’. it became as viral as an
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global video advertising distribution business group imd has announced it is to merge honeycomb an advanced saas video fulfilment platform with…
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many taken-for-granted beliefs about leadership, people and work have evaporated before our eyes over the past 18 months, and some of these beliefs have been held for so long that they became myths
the met department may have withdrawn its first heatwave of the year warning for konkan and kutch over non-fulfilment of criteria, but officials confi
thiruvananthapuram: the india meteorological department (imd) said on sunday the southwest monsoon’s arrival in kerala will be delayed slightly and it may occur
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what can imd solicitors offer consultant solicitors?: by working as a consultant at imd solicitors, you are in charge of what your working life looks like.
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differently abled persons staging a protest rally over non-fulfilment of their demands, in guwahati on monday. � at photo
the index of multiple deprivation (imd), used widely in england, is an important tool for social need and inequality identification. it summarises deprivation across seven dimensions (income, employm
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