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13 results

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Page 1
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. ...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 …
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. ...The course of BASD may be modified by repla …
Bile acid synthetic defects (BASD), uncommon genetic disorders that are responsible for approximately 2% of persistent …
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 …
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.
Diagnosis of Alagille syndrome, a condition that should be suspected in all patients with unexplained cholestasis, will thus be confirmed by genetic analysis for mutations of JAG1. In children with cholestasis and low serum bile acid levels, an inborn error of bi …
Diagnosis of Alagille syndrome, a condition that should be suspected in all patients with unexplained cholestasis, will thus be confirmed by …
Clinical biochemistry of peroxisomal disorders.
Kaiser E, Kramar R. Kaiser E, et al. Clin Chim Acta. 1988 Mar 31;173(1):57-80. doi: 10.1016/0009-8981(88)90357-9. Clin Chim Acta. 1988. PMID: 3289796 Review.
Peroxisomal anomalities are central features of Zellweger's cerebro-hepato-renal syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease and several other genetic metabolic disorders (pseudo-Zellweger syndrome, Leber congenital amaurosis, cerebrotendinous xanth …
Peroxisomal anomalities are central features of Zellweger's cerebro-hepato-renal syndrome, neonatal adrenoleukodystrophy, infantile Refsum's …
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.
Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature.
Wang HH, Wen FQ, Dai DL, Wang JS, Zhao J, Setchell KD, Shi LN, Zhou SM, Liu SX, Yang QH. Wang HH, et al. World J Gastroenterol. 2018 Sep 21;24(35):4086-4092. doi: 10.3748/wjg.v24.i35.4086. World J Gastroenterol. 2018. PMID: 30254413 Free PMC article. Review.
Steroid 5beta-reductase [aldo-keto reductase family 1 member D1 (AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficiency caused by genetic defects in AKR1D1 leads to life-threatening neonatal hepatitis and cholestasis. ...
Steroid 5beta-reductase [aldo-keto reductase family 1 member D1 (AKR1D1)] is essential for bile acid biosynthesis. B …
[P4-ATP-ase Atp8b1/FIC1: structural properties and (patho)physiological functions].
Korneenko TV, Pestov NB, Okkelman IA, Modyanov NN, Shakhparonov MI. Korneenko TV, et al. Bioorg Khim. 2015 Jan-Feb;41(1):3-12. doi: 10.1134/s1068162015010070. Bioorg Khim. 2015. PMID: 26050466 Review. Russian.
Isoforms of P4-ATP-ases are partially interchangeable but peculiarities of tissue-specific expression of their genes, intracellular localization of proteins, as well as regulatory pathways lead to the fact that, on the organismal level, serious pathologies may develop in the pres …
Isoforms of P4-ATP-ases are partially interchangeable but peculiarities of tissue-specific expression of their genes, intracellular localiza …
13 results