Results 81 to 90 of about 674,474 (173)

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS IN CHILDREN

Паёми Сино
Objective: To analyze the literature on the epidemiology and pathogenesis of different types of progressive familial intrahepatic cholestasis (PFIC).
R.A. GUDKOV, A.V. DMITRIEV, N.V. FEDINA, V.I. PETROVA   +3 more
doaj   +1 more source

Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study. [PDF]

J Clin Med, 2023
Kato K, Umetsu S, Togawa T, Ito K, Kawabata T, Arinaga-Hino T, Tsumura N, Yasuda R, Mihara Y, Kusano H, Ito S, Imagawa K, Hayashi H, Inui A, Yamashita Y, Mizuochi T.   +15 more
europepmc   +1 more source

[One case of benign recurrent intrahepatic cholestasis type 2]. [PDF]

Zhonghua Gan Zang Bing Za Zhi, 2023
Zhu F, Li K, Yan YD.
europepmc   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Case report. Benign recurrent intrahepatic cholestasis in a Chinese girl

, 1989
A 15 year old Chinese girl presented with features of benign recurrent intrahepatic cholestasis, confirmed by liver biopsies performed during attack and remission. Her only younger brother also has features of this syndrome.
Lau, JYN, Lok, ASF, Lai, CL, Lin, HJ, Wu, PC   +4 more
core  

Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis

, 1994
It is now feasible to map disease genes by screening the genome for linkage disequilibrium between the disease and marker alleles. This report presents the first application of this approach for a previously unmapped locus.
Houwen, R.H.J. (Roderick), Nelson B. Freimer, Jenneke Juyn, Lodewijk A. Sandkuijl, Raeymaekers, P. (Peter), Freimer, N.B. (Nelson), Kathleen Blankenship, Sandkuijl, L.A. (Lodewijk), Baharloo, S. (Siamak), Juyn, J. (Jenneke), Roderick H. J. Houwen, Peter Raeymaekers, Siamak Baharloo, Blankenship, K. (Kathleen)   +13 more
core   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24

, 2000
Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. On the basis of recent evidence of locus heterogeneity, we studied 19
SANGALLI A., MOLARO M., MOTTES M., BARAGIOTTA A. RODA A. NACCARATO R. CLEMENTI M., FLOREANI, ANNAROSA   +4 more
core  

Data Sheet 1_Case Report: Recurrent intrahepatic cholestasis: two rare cases with their novel variants of ATB8B1 and atypical clinical findings.pdf

Recurrent intrahepatic cholestasis type 1 (RIC1), historically also known as BRIC 1 (benign recurrent intrahepatic cholestasis typr 1),is an autosomal recessive disorder presenting with intermittent episodes of cholestatic jaundice and caused by ...
Luyu Lv (21449864), Qi Wei (198826), Huarong Ding (24266521), Sicong Liu (173137), Jiaxun Li (803652), Qiuyue Ning (24371825), Liping Guo (596697), Diefei Hu (24371822)   +7 more
core   +1 more source

Progressive Familial Intrahepatic Cholestasis Type 1

, 2010
Progressive familial intrahepatic cholestasis type 1 is a rare genetic liver disease that presents in the first year of life. Bile salts are elevated and these patients are often jaundiced.
Jansen, Peter L. M., Oude Elferink, Ronald P. J., Paulusma, Coen C.   +2 more
core   +1 more source