Zobrazeno 1 - 5
of 5
pro vyhledávání: '"John (Pei-Wen) Chiang"'
Autor:
Andrea E. DeBarber, Jenny Luo, Michal Star-Weinstock, Subhasish Purkayastha, Michael T. Geraghty, John (Pei-Wen) Chiang, Louise S. Merkens, Anuradha S. Pappu, Robert D. Steiner
Publikováno v:
Journal of Lipid Research, Vol 55, Iss 1, Pp 146-154 (2014)
Cerebrotendinous xanthomatosis (CTX) is a rare, difficult-to-diagnose genetic disorder of bile acid (BA) synthesis that can cause progressive neurological damage and premature death. Detection of CTX in the newborn period would be beneficial because
Externí odkaz:
https://doaj.org/article/0797e3db3aab433a9851534dd605d420
Autor:
Jennifer A, Thompson, John Pei-Wen, Chiang, John N, De Roach, Terri L, McLaren, Fred K, Chen, Ling, Hoffmann, Isabella, Campbell, Tina M, Lamey
Publikováno v:
Advances in experimental medicine and biology. 1185
Inherited retinal diseases (IRDs) are genetically and phenotypically diverse, and they cause significant morbidity worldwide. Importantly, IRDs may be amenable to precision medicine strategies, and thus the molecular characterisation of causative var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd03a53982fd88c849fab15045cb4e5f
https://pubmed.ncbi.nlm.nih.gov/31884623
https://pubmed.ncbi.nlm.nih.gov/31884623
Autor:
Roberto Giugliani, Jenny Luo, Robert D. Steiner, Andrea E. DeBarber, Louise S. Merkens, John Pei-Wen Chiang, Anuradha S. Pappu, Carolina Fischinger Moura de Souza
Publikováno v:
Clinical biochemistry. 47(9)
Objectives Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder of bile acid (BA) synthesis that can cause progressive neurological damage and premature death. Blood (normally serum or plasma) testing for CTX is performed by a small number
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f7f576a56ce0304a2fd6ab0ed7cc2bc
https://pubmed.ncbi.nlm.nih.gov/24769274
https://pubmed.ncbi.nlm.nih.gov/24769274
Autor:
Robert D. Steiner, Jenny Luo, Louise S. Merkens, John Pei-Wen Chiang, Michal Star-Weinstock, Michael T. Geraghty, Subhasish Purkayastha, Anuradha S. Pappu, Andrea E. DeBarber
Publikováno v:
Journal of Lipid Research, Vol 55, Iss 1, Pp 146-154 (2014)
Cerebrotendinous xanthomatosis (CTX) is a rare, difficult-to-diagnose genetic disorder of bile acid (BA) synthesis that can cause progressive neurological damage and premature death. Detection of CTX in the newborn period would be beneficial because
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d649a7a0f53feb6ca780d8eaf5a3b627
https://europepmc.org/articles/PMC3927472/
https://europepmc.org/articles/PMC3927472/
Publikováno v:
Archives of Ophthalmology. 130:1324
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0327f01f48fbf6020db8ea7bb74d51a
https://doi.org/10.1001/archophthalmol.2012.1807
https://doi.org/10.1001/archophthalmol.2012.1807