Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
about
Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotypeIdentification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver diseaseThe molecular genetics of familial intrahepatic cholestasisMutations in the MDR3 gene cause progressive familial intrahepatic cholestasisLiver transplantation and the management of progressive familial intrahepatic cholestasis in childrenLiver biopsy in modern clinical practice: a pediatric point-of-viewP4 ATPases: flippases in health and diseaseStrain background modifies phenotypes in the ATP8B1-deficient mouse.Progressive familial intrahepatic cholestasis.Mutations in TJP2 cause progressive cholestatic liver disease.Bile formation and secretion.Genetics and gastroenterology.Progressive intrahepatic cholestasis (Byler's disease): case report.Byler-like familial cholestasis in an extended kindredCholestasis.Severe familial intrahepatic cholestasisBone disease in infants and children with hepatobiliary disease.Genetics of familial intrahepatic cholestasis syndromes.Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancyATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.Mice with homozygous disruption of the mdr2 P-glycoprotein gene. A novel animal model for studies of nonsuppurative inflammatory cholangitis and hepatocarcinogenesisHepatobiliary transport in health and diseaseFamilial intrahepatic cholestasis: an updateCongenital cholestatic syndromes: what happens when children grow up?The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor.Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasisMultiple Looser zones of osteomalacia in Byler disease with associated vitamin D deficiency, phosphaturia, and elevated FGF23.Effect of Liver Disease on Hepatic Transporter Expression and Function.Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome.Liver disease without flipping: new functions of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1.Progressive familial intrahepatic cholestasis types 1, 2, and 3.New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical ImplicationsProgressive familial intrahepatic cholestasis: diagnosis, management, and treatment
P2860
Q24538685-C69347E4-4653-4040-8D0D-F52656EAFFF6Q24564340-2DA85585-3760-47F9-8AAB-FAF170B5D38AQ24670001-54A2C45D-4B37-4D66-AB9A-3CF00907146FQ24681704-16558DD5-FA86-421B-95A9-FD1CBACDAB61Q26745970-54AE7F83-F38C-48AD-A91F-19A634ACCBA0Q26826920-570C8ABB-1294-4A84-B061-35836E26DCACQ28397755-35F89D25-5737-46A9-805F-A2F201C3EB90Q33529062-31DA0573-E75D-4219-B0D2-AC84900EDDAAQ33595403-E27AD85C-443D-43BC-8E6B-BBD5EC007F6DQ33770688-7A432BB8-A915-4F70-9142-BCE53A2BA091Q33881922-A7E59F20-A02F-4F40-AE92-BE27DA0DF7A2Q34473937-3B1171BE-91AA-4901-879A-23C8B5D5DE6BQ34477382-ABF9837C-B3DC-4848-B107-A7B7A7B7D485Q34799782-5FE41BAC-B166-4B3F-A0AD-3E79D94A8D37Q35090225-8108D8CA-96D9-46BE-8CE4-0B1F62761C32Q35150712-3F7FFCE0-01D8-41DA-95A1-0B36945A4C7CQ35151520-5350D41A-B1E5-48DE-8B8D-BF670AD4FE4AQ35448570-AB2E681F-0855-4F39-B68C-027D99F805CFQ35595748-454D2DCF-072F-4776-B06D-EC0127D851A4Q35597455-4B77C1EC-2E25-415E-A054-5B7093DE4FD4Q35834086-BC778D7B-1A51-4DDC-AC8D-03A450DD1B23Q36126750-6DAE7E97-D891-47F8-B113-CC9582A3283BQ36998967-DB71AF4A-06EE-4B77-91DB-C6693CAE1F08Q37008383-36061B81-4D67-472A-BDBB-6157FE1240CFQ37415558-49938CF1-9E72-4122-8C9E-BEF9DAB412ABQ38305536-C96216F7-0C40-4B9C-BFD3-5705B75009C7Q38521077-587FD38C-A29A-4EEE-9CC0-02F46A7928D9Q38808182-E40E6D55-072E-42EA-9B86-B5AAF57AC8E0Q38982098-B8071594-0940-46B0-BFE0-28382A625B00Q42555152-5B934A2F-2928-473D-B9E2-4E4121E2CDD1Q43087602-8B349A14-065E-482A-B4F6-01AE1FDE64B9Q57114068-7D0D8734-AEA0-48BC-ACAC-FD5E62F0201BQ58754600-8D5F5052-DC80-4687-A02A-F86377184BC6
P2860
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
description
1969 nî lūn-bûn
@nan
1969 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1969 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1969年の論文
@ja
1969年論文
@yue
1969年論文
@zh-hant
1969年論文
@zh-hk
1969年論文
@zh-mo
1969年論文
@zh-tw
1969年论文
@wuu
name
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
@ast
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
@en
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
@nl
type
label
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
@ast
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
@en
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
@nl
prefLabel
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
@ast
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
@en
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
@nl
P2093
P1476
Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
@en
P2093
B H Ruebner
R J Clayton
V A McKusick
P304
P407
P577
1969-01-01T00:00:00Z