Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Annabel Griffiths"'
Autor:
Hyun Kyoo Yoo, Alex Porteous, Alvin Ng, Keval Haria, Annabel Griffiths, Andrew Lloyd, Xiaoqin Yang, Gbenga Kazeem, Volkan Barut
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-10 (2023)
Abstract Background Plexiform neurofibromas (PN) are complex, benign nerve-sheath tumours that occur in 30–50% of patients with neurofibromatosis type 1 (NF1), a rare, genetic disorder. PN are associated with substantial, heterogeneous morbidities
Externí odkaz:
https://doaj.org/article/a0c2515b77434a7bae96cbcfa13340cd
Autor:
Nicola Specchio, Paul Gissen, Emily de Los Reyes, Andrew Olaye, Charlotte Camp, Tristan Curteis, Annabel Griffiths, Thomas Butt, Jessica Cohen-Pfeffer, Peter Slasor, Zlatko Sisic, Mohit Jain, Angela Schulz
Publikováno v:
PLoS ONE, Vol 19, Iss 5, p e0302382 (2024)
BackgroundThe CLN2 Clinical Rating Scale evaluates disease progression in CLN2 disease, an ultra-rare, neurodegenerative disorder with late infantile onset. To validate the Clinical Rating Scale, a comparison with the Pediatric Quality of Life Invent
Externí odkaz:
https://doaj.org/article/ffa584edb7444e39bb9066a50015e6e3
Autor:
Paul Gissen, Nicola Specchio, Andrew Olaye, Mohit Jain, Thomas Butt, Wrik Ghosh, Benjamin Ruban-Fell, Annabel Griffiths, Charlotte Camp, Zlatko Sisic, Christoph Schwering, Eva Wibbeler, Marina Trivisano, Laura Lee, Miriam Nickel, Amanda Mortensen, Angela Schulz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Abstract Background Utility studies enable preference-based quantification of a disease’s impact on patients’ health-related quality of life (HRQoL). It is often difficult to obtain utility values for rare, neurodegenerative conditions due to cog
Externí odkaz:
https://doaj.org/article/05ce73df0f3c470db18d58551b88cab3
Autor:
Sana Eljamel, Wrik Ghosh, Sachin De Stone, Annabel Griffiths, Timothy Barrett, Richard Thompson
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
Abstract Background Wolfram syndrome is a rare genetic, progressive, neurodegenerative disorder characterised by childhood-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness. To date, the economic burden of Wolfram syndrome has n
Externí odkaz:
https://doaj.org/article/2569b1a8e81f4dbe8ab1813dd58596bd
Autor:
Kate Khair, Elizabeth Chalmers, Thuvia Flannery, Annabel Griffiths, Felicity Rowley, Guillermo Tobaruela, Pratima Chowdary
Publikováno v:
Therapeutic Advances in Hematology, Vol 12 (2021)
Background and Aims: Despite advances in haemophilia care, inhibitor development remains a significant complication. Although viable treatment options exist, there is some divergence of opinion in the appropriate standard approach to care and goals o
Externí odkaz:
https://doaj.org/article/67cd35fb39a44ce4b4d1c7a75562cd2a
Autor:
Sana Eljamel, Annabel Griffiths, Jenni Evans, Indraneel Banerjee, Khalid Hussain, Richard Thompson
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Abstract Background Congenital hyperinsulinism (CHI) is a rare, genetic disease which causes persistent hypoglycaemia, typically in new-borns. Patients with the diffuse disease variant often require near-total surgical removal of the pancreas, causin
Externí odkaz:
https://doaj.org/article/da148f88ff984765ad6ab29b360cb001
Autor:
Pratima Chowdary, Elizabeth Chalmers, Felicity Rowley, Kate Khair, Annabel Griffiths, Thuvia Flannery, Guillermo Tobaruela
Publikováno v:
Therapeutic Advances in Hematology, Vol 12 (2021)
Therapeutic Advances in Hematology
Therapeutic Advances in Hematology
Background and Aims: Despite advances in haemophilia care, inhibitor development remains a significant complication. Although viable treatment options exist, there is some divergence of opinion in the appropriate standard approach to care and goals o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c564596c617506354f0d130589b445
https://pubmed.ncbi.nlm.nih.gov/33995986
https://pubmed.ncbi.nlm.nih.gov/33995986