3 Papers
24 Citations
J T Boyle is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Progressive familial intrahepatic cholestasis & Pancreatitis. The author has an hindex of 3, co-authored 3 publications.
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Papers
Byler’s syndrome
TL;DR: The report of Byler’s syndrome with raised sweat electrolytes in an Irish traveller kindred interests us, as two members of the original Byler kindred who have Byler's disease are observed.
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Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity.
Laura N. Bull,Victoria E.H. Carlton,N. L. Stricker,Siamak Baharloo,Joseph DeYoung,Nelson B. Freimer,M. S. Magid,E. Kahn,John S. Markowitz,F. J. Dicarlo,L. Mcloughlin,J T Boyle,B. B. Dahms,P. R. Faught,J. F. Fitzgerald,D. A. Piccoli,C. L. Witzleben,N. C. O'connell,K. D. R. Setchell,R. M. Agostini,S A Kocoshis,J. Reyes,A. S. Knisely +22 more
TL;DR: Examination of haplotypes in siblings with ByS in two unrelated non‐Amish families showed that the gene(s) responsible for their disorder did not lie in the PFIC‐1 candidate region, and genetic analysis and light microscopy and TEM of liver may help distinguish PF IC‐1 from other forms of ByS.