About: Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome

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About: Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
Creator	Constantini, Shlomi Gugel, Isabel Haas-Lude, Karin Mautner, Victor-Felix Schuhmann, Martin Toledano-Alhadef, Hagit Zipfel, Julian
Source	Medline; PMC
abstract	PURPOSE: Neurofibromatosis type 1 (NF1) syndrome is a common rare/orphan disease that manifests itself early in the paediatric age. It imposes a considerable burden upon patients as well as on caregivers. Decisions regarding optimal care often rely on several medical instances working together as a team. METHODS: The authors reviewed the literature and supplied a description of their own clinical work at the NF1 centres. RESULTS: The experience of a multidisciplinary teamwork of three NF centres was summarized in order to enhance awareness for possible multidisciplinary ways of delivery of health and health-related aspects of care to NF1 patients. Both population-focused research centres and family-focused centres were reviewed. CONCLUSIONS: Chronic rare diseases that start in the paediatric age mandate long-term follow-up most often by several disciplines. NF1 syndrome is an example of a multidisciplinary centre in order to enhance the quality of care.
has issue date	2020-06-08(xsd:dateTime)
bibo:doi	10.1007/s00381-020-04708-1
bibo:pmid	32514759
has license	no-cc
sha1sum (hex)	84df2eea93e383038af5f89f94b67f12ae70c3c5
schema:url	https://doi.org/10.1007/s00381-020-04708-1
resource representing a document's title	Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
has PubMed Central identifier	PMC7276654
has PubMed identifier	32514759
schema:publication	Childs Nerv Syst
resource representing a document's body	covid:84df2eea93e383038af5f89f94b67f12ae70c3c5#body_text
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