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Page 1
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
Tendons Involvement in Congenital Metabolic Disorders.
Abate M, Salini V, Andia I. Abate M, et al. Adv Exp Med Biol. 2016;920:117-22. doi: 10.1007/978-3-319-33943-6_10. Adv Exp Med Biol. 2016. PMID: 27535253 Review.
Congenital metabolic disorders are consequence of defects involving single genes that code for enzymes. ...Cerebrotendinous Xanthomatosis is a rare genetic metabolic disorder of cholesterol and bile acid metabolism, characterized by accumulation
Congenital metabolic disorders are consequence of defects involving single genes that code for enzymes. ...Cerebrotendinous Xa
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. ...OBJECTIVES: To evaluate the effects of statins, either alone or in combination with other non-statin therapies (e.g. choles …
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformations syndrome caused by defective cholesterol …
Congenital diseases of the gastrointestinal tract.
Lentze M. Lentze M. Georgian Med News. 2014 May;(230):46-53. Georgian Med News. 2014. PMID: 24940857 Review.
With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. ...A variety of congenital diarrheas with disturbances of …
With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital dis …
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. ...
The mutation of genes encoding ABCD1, ABCD3, and ABCD4 are responsible for genetic diseases called X-linked adrenoleukodystrophy, congeni
Review: the cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects.
Kelley RI. Kelley RI. Am J Med Genet. 1983 Dec;16(4):503-17. doi: 10.1002/ajmg.1320160409. Am J Med Genet. 1983. PMID: 6362411 Review.
After a discussion of the clinical diagnosis of CHRS, abnormalities in the metabolism of peroxisomes, mitochondria, iron, pipecolic acid, glycogen, bile acids, and organic acids are discussed and related to the clinical and other biochemi …
After a discussion of the clinical diagnosis of CHRS, abnormalities in the metabolism of peroxisomes, mitochondria, iron, pipe …
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.
Inborn Errors of Bile Acid Metabolism.
Heubi JE, Setchell KDR, Bove KE. Heubi JE, et al. Clin Liver Dis. 2018 Nov;22(4):671-687. doi: 10.1016/j.cld.2018.06.006. Epub 2018 Aug 22. Clin Liver Dis. 2018. PMID: 30266156 Review.
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. ...Cholic acid is an effective treatment of most single-enzyme defects and patients with Zellweger spectrum disorder wi …
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and a …
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 …
Bile acids.
Whiting MJ. Whiting MJ. Adv Clin Chem. 1986;25:169-232. doi: 10.1016/s0065-2423(08)60126-2. Adv Clin Chem. 1986. PMID: 3521214 Review. No abstract available.
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