Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Robert Barski"'
Autor:
Nathan W. P. Cantley, Robert Barski, Helena Kemp, Sarah L. Hogg, Hoi Yee Teresa Wu, Ann Bowron, Catherine Collingwood, Jennifer Cundick, Claire Hart, Lynette Shakespeare, Mary Anne Preece, Helen Aitkenhead, Sarah Smith, Rachel S. Carling, Stuart J. Moat
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 2 (2023)
In the UK, Classical Galactosaemia (CG) is identified incidentally from the Newborn Screening (NBS) for phenylketonuria (PKU) using an “Other disorder suspected” (ODS) pathway when phenylalanine (Phe) and tyrosine (Tyr) concentrations are increas
Externí odkaz:
https://doaj.org/article/79260bb016c04c578835f77e03d5ce0a
Autor:
Sarah L Hogg, Rachel S Carling, Nathan WP Cantley, Gillian Hamilton, Philippa Goddard, Helen Aitkenhead, Robert Barski, Catherine Collingwood, Stuart J Moat, Helena J Kemp
Publikováno v:
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 60:208-211
Background Sapropterin has been approved as a treatment option for individuals with Phenylketonuria in the United Kingdom. Individuals are assessed as responsive to Sapropterin by a ≥30% reduction in Phenylalanine (Phe) concentrations using dried b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3601185d84f6c1148abad0c246ef5d5b
https://doi.org/10.1177/00045632231156035
https://doi.org/10.1177/00045632231156035
Publikováno v:
Pediatric Dermatology. 36:906-908
Angiokeratoma corporis diffusum refers to symmetrical clusters of minute red papules in a "bathing trunk" distribution and is considered the cutaneous hallmark of Fabry disease. Acid sphingomyelinase deficiency is an autosomal recessive sphingolipido
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ff8fac28d08e2adf363fb64673e6aaa
https://doi.org/10.1111/pde.13889
https://doi.org/10.1111/pde.13889
Autor:
Deepa Narayanan, Collette Stainforth, Robert Barski, Hazel Rogozinski, Reena Sharma, Deepak Chandrajay, Mick J Henderson, Ahai Luvai, Jacqueline Bradley
Publikováno v:
Annals of clinical biochemistry. 51(Pt 3)
Phenylketonuria (PKU), is an autosomal recessive condition affecting the amino acid metabolism. The UK National newborn screening programme was commenced in 1969 and PKU is one among the five conditions included in the screening programme. We present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b12bb2645641bb87fc42e210ddfaa801
https://pubmed.ncbi.nlm.nih.gov/24097808
https://pubmed.ncbi.nlm.nih.gov/24097808
Publikováno v:
BMJ (Clinical research ed.). 347
A 27 year old man was referred to the clinic for further evaluation after he developed sudden left sided facial droop, right sided visual loss, and slurred speech. Two months previously he had elective corneal transplantation of the left eye. At the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a09ec009e2a0d5cd98c47d136c7957dd
https://pubmed.ncbi.nlm.nih.gov/23857996
https://pubmed.ncbi.nlm.nih.gov/23857996