Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

1974
2025

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1981 1
1988 1
2000 1
2002 1
2004 2
2011 1
2015 1
2018 1
2021 1
2022 2
2023 1
2024 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

15 results

Results by year

Filters applied: . Clear all
Page 1
Acute liver failure in children.
Devictor D, Tissieres P, Afanetti M, Debray D. Devictor D, et al. Clin Res Hepatol Gastroenterol. 2011 Jun;35(6-7):430-7. doi: 10.1016/j.clinre.2011.03.005. Epub 2011 Apr 30. Clin Res Hepatol Gastroenterol. 2011. PMID: 21531191 Review.
Biliary atresia revisited.
Kahn E. Kahn E. Pediatr Dev Pathol. 2004 Mar-Apr;7(2):109-24. doi: 10.1007/s10024-003-0307-y. Epub 2004 Mar 4. Pediatr Dev Pathol. 2004. PMID: 14994122 Review.
The symptoms of the former start shortly after birth and there is frequently an association with a variety of congenital anomalies. Children with the perinatal form become jaundiced several weeks after birth; no associated congenital anomalies are present. ...The di …
The symptoms of the former start shortly after birth and there is frequently an association with a variety of congenital anomalies. C …
Statins for Smith-Lemli-Opitz syndrome.
Ballout RA, Livinski A, Fu YP, Steiner RD, Remaley AT. Ballout RA, et al. Cochrane Database Syst Rev. 2022 Nov 14;11(11):CD013521. doi: 10.1002/14651858.CD013521.pub2. Cochrane Database Syst Rev. 2022. PMID: 36373961 Free PMC article. Review.
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformations syndrome caused by defective cholesterol biosynthesis. Affected individuals show cholesterol deficiency and accumulation of various precursor molecules, mainly 7-dehydrocholesterol …
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformations syndrome caused by defective cholesterol …
Peroxisomal ABC Transporters: An Update.
Tawbeh A, Gondcaille C, Trompier D, Savary S. Tawbeh A, et al. Int J Mol Sci. 2021 Jun 5;22(11):6093. doi: 10.3390/ijms22116093. Int J Mol Sci. 2021. PMID: 34198763 Free PMC article. Review.
They possess overlapping but specific substrate specificity, allowing the transport of various lipids into the peroxisomal matrix. The defects of ABCD1 and ABCD3 are responsible for two genetic disorders called X-linked adrenoleukodystrophy and congenital bile
They possess overlapping but specific substrate specificity, allowing the transport of various lipids into the peroxisomal matrix. The de
Bile acid synthetic defects and liver disease: a comprehensive review.
Bove KE, Heubi JE, Balistreri WF, Setchell KD. Bove KE, et al. Pediatr Dev Pathol. 2004 Jul-Aug;7(4):315-34. doi: 10.1007/s10024-002-1201-8. Epub 2004 Jul 15. Pediatr Dev Pathol. 2004. PMID: 15383928 Review.
Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent cholestasis in infants, are reviewed with emphasis on morphology of associated liver disease. ...Ultrastructure of liver reveals nonspecific
Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent
Management and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.
Kavallar AM, Mayerhofer C, Aldrian D, Okamoto T, Müller T, Vogel GF. Kavallar AM, et al. Hepatol Commun. 2023 Sep 27;7(10):e0286. doi: 10.1097/HC9.0000000000000286. eCollection 2023 Oct 1. Hepatol Commun. 2023. PMID: 37756114 Free PMC article.
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous rare congenital cholestatic liver disease. Disease progression might necessitate liver transplantation (LT). ...Meta-analysis showed an efficacy of 81.1% [95% CI: 47.5%-100%] for rit …
BACKGROUND: Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous rare congenital cholestatic liver disease. Diseas …
[Cholestatic liver disease in children].
Jankowska I, Pawłowska J, Swiatkowska E, Rujner J, Socha J. Jankowska I, et al. Przegl Epidemiol. 2002;56 Suppl 5:16-21. Przegl Epidemiol. 2002. PMID: 15553067 Review. Polish.
Intrahepatic cholestasis may be caused by a broad spectrum of different disorders such as congenital infection, endocrine, chromosomal abnormalities or inborn errors of metabolism. Familial clustering is typical for the Byler's disease, Alagille's syndrome, P …
Intrahepatic cholestasis may be caused by a broad spectrum of different disorders such as congenital infection, endocrine, chromosoma …
Substrate Specificity and the Direction of Transport in the ABC Transporters ABCD1-3 and ABCD4.
Kawaguchi K, Imanaka T. Kawaguchi K, et al. Chem Pharm Bull (Tokyo). 2022;70(8):533-539. doi: 10.1248/cpb.c21-01021. Chem Pharm Bull (Tokyo). 2022. PMID: 35908918 Free article. Review.
The mutation of genes encoding ABCD1, ABCD3, and ABCD4 are responsible for genetic diseases called X-linked adrenoleukodystrophy, congenital bile acid synthesis defect 5, and cobalamin deficiency, respectively. In this review, we summarize the t …
The mutation of genes encoding ABCD1, ABCD3, and ABCD4 are responsible for genetic diseases called X-linked adrenoleukodystrophy, congeni
Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.
Colombo C, Okolicsanyi L, Strazzabosco M. Colombo C, et al. Dig Liver Dis. 2000 Mar;32(2):152-9. doi: 10.1016/s1590-8658(00)80403-x. Dig Liver Dis. 2000. PMID: 10975791 Review.
In children with cholestasis and low serum bile acid levels, an inborn error of bile acid synthesis should be excluded by urinary bile acid analysis by means of fast atom bombardment-ionization mass-spectrometry. In contrast, in ch …
In children with cholestasis and low serum bile acid levels, an inborn error of bile acid synthesis shoul …
15 results