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Genomics and Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB
Last data update: Jan 24, 2021. (Total: 38387 Documents since 2012)
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Records 1-20 (of 20 Record(s))
Query Trace: Rare diseases[original query]>>Tools/Methods[Product Type]
Publication
European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT).
Eker Omer F et al. Orphanet journal of rare diseases 2020 Jun 15(1) 165
Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.
Mellerio Jemima E et al. Orphanet journal of rare diseases 2020 Jun 15(1) 142
Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines.
Martin K et al. Orphanet journal of rare diseases 2019 14(1) 133
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
Akyol Mehmet Umut et al. Orphanet journal of rare diseases 2019 14(1) 118
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
van de Laar Ingrid M B H et al. Orphanet journal of rare diseases 2019 Nov 14(1) 264
The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases - recommendations of the IRDiRC Data Mining and Repurposing Task Force.
Southall Noel T et al. Orphanet journal of rare diseases 2019 Oct 14(1) 225
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
Rinaldi Berardo et al. Orphanet journal of rare diseases 2017 12(1) 69
International Guidelines for the Treatment of Huntington's Disease.
Bachoud-Lévi Anne-Catherine et al. Frontiers in neurology 2019 10710
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
Kuiper Gé-Ann et al. Orphanet journal of rare diseases 2019 14(1) 17
Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU.
et al. Orphanet journal of rare diseases 2019 14(1) 2
Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium.
Javaid Muhammad Kassim et al. Orphanet journal of rare diseases 2019 Jun 14(1) 139
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
Akyol Mehmet Umut et al. Orphanet journal of rare diseases 2019 Jun 14(1) 137
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot Tarekegn et al. Orphanet journal of rare diseases 2018 Apr 13(1) 50
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Kwon Jennifer M et al. Orphanet journal of rare diseases 2018 Feb 13(1) 30
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.
Lochmüller Hanns, et al. European journal of human genetics : EJHG 2017 12 0. (12) 1293-1302
Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.
Manna Raffaele et al. Internal and emergency medicine 2017 Jul
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
Cismondi Inés Adriana et al. Biochim. Biophys. Acta 2015 Jun 24.
Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.
O'Byrne J J et al. Ir J Med Sci 2015 Apr 21.
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.
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