Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Adeboye Ifederu"'
Autor:
Erin Walker, Rachel Knowles, Catherine Peters, Neil J Sebire, Melissa Cabecinha, Helen Aitkenhead, Milagros Ruiz Nishiki, Adeboye Ifederu, Nadia Schoenmakers
Publikováno v:
BMJ Paediatrics Open, Vol 6, Iss 1 (2022)
Introduction There has been an increase in the birth prevalence of congenital hypothyroidism (CH) since the introduction of newborn screening, both globally and in the UK. This increase can be accounted for by an increase in CH with gland in situ (CH
Externí odkaz:
https://doaj.org/article/f45cae60c78c455482e327781db7a943
Autor:
Stuart P. Adams, Emma Gravett, Natalie Kent, Susanne Kricke, Adeboye Ifederu, Mariacristina Scoto, Salma Samsuddin, Francesco Muntoni
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 4, p 69 (2021)
Spinal muscular atrophy (SMA) is an autosomal inherited neuromuscular genetic disease caused, in 95% of cases, by homozygous deletions involving the SMN1 gene exon 7. It remains the leading cause of death in children under 2 years of age. New treatme
Externí odkaz:
https://doaj.org/article/341a1c50d97b4741acc7c5fa038ac37b
Autor:
Erin Walker, Neil J. Sebire, Milagros Ruiz Nishiki, Natassa Spiridou, Catherine Peters, Pia Hardelid, Rachel L Knowles, Adeboye Ifederu, Melissa Cabecinha, Nadia Schoenmakers, Helen Aitkenhead
Publikováno v:
Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f58acd5bd6d70bfac8ac700a954d316
https://doi.org/10.1136/archdischild-2021-rcpch.796
https://doi.org/10.1136/archdischild-2021-rcpch.796
Autor:
Milagros Ruiz Nishiki, Melissa Cabecinha, Rachel Knowles, Catherine Peters, Helen Aitkenhead, Adeboye Ifederu, Nadia Schoenmakers, Neil J Sebire, Erin Walker, Pia Hardelid
Publikováno v:
BMJ Paediatrics Open. 6:e001341
Funder: National Institute for Health Research (NIHR)
INTRODUCTION: There has been an increase in the birth prevalence of congenital hypothyroidism (CH) since the introduction of newborn screening, both globally and in the UK. This increase can
INTRODUCTION: There has been an increase in the birth prevalence of congenital hypothyroidism (CH) since the introduction of newborn screening, both globally and in the UK. This increase can
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb162cf8f1d4636e6ac9a820567064c9
https://doi.org/10.1136/bmjpo-2021-001341
https://doi.org/10.1136/bmjpo-2021-001341
Autor:
Katie Harvey, Samina Rashid, Melanie Wilson, Tharindu Premachandra, Stuart Adams, Adeboye Ifederu, H. Bobby Gaspar
Publikováno v:
Journal of Clinical Immunology. 34:323-330
Severe Combined Immunodeficiency (SCID) is considered to be a paediatric emergency and unless identified promptly can be life-threatening. Frequently, infants are not diagnosed with SCID until they have become seriously ill with infection leading to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c4526f02546933a96271b6ab59b1173
https://doi.org/10.1007/s10875-014-0007-6
https://doi.org/10.1007/s10875-014-0007-6
Autor:
Catherine, Peters, Ivan, Brooke, Simon, Heales, Adeboye, Ifederu, Shirley, Langham, Peter, Hindmarsh, Tim J, Cole
Publikováno v:
The Journal of Clinical Endocrinology and Metabolism
Context: There is variability in the congenital hypothyroidism (CH) newborn screening TSH cutoff across the United Kingdom. Objective: To determine the influences of year, gender, and ethnicity on screening variability and examine whether there is an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::99d0165bbdcc7a884b22359eda9bccd4
https://pubmed.ncbi.nlm.nih.gov/27399348
https://pubmed.ncbi.nlm.nih.gov/27399348
Autor:
Stuart J. Moat, Kate Hall, Lawrence King, Christine Morrell, Derek W Rees, Geoff Lloyd, Sharon Hillier, Adeboye Ifederu, Katie Harvey
Publikováno v:
Clinical chemistry. 60(2)
BACKGROUND The currently recommended technologies of HPLC and isoelectric focusing for newborn blood spot screening for sickle cell disease (SCD) identify both the disease and carrier states, resulting in large numbers of infants being followed up un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b3b337b311ffd6ce50df192984d49bb
https://pubmed.ncbi.nlm.nih.gov/24158758
https://pubmed.ncbi.nlm.nih.gov/24158758