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Items: 1 to 20 of 111

1.

An inborn error of bile salt transport with features mimicking abusive head trauma.

Hendrickson DJ, Knisely AS, Coulter K, Telander DG, Quan R, Ruebner BH, Leigh MJ.

Child Abuse Negl. 2010 Jul;34(7):472-6. doi: 10.1016/j.chiabu.2009.11.008. Epub 2010 Jun 2. No abstract available.

PMID:
20627390
2.

Evaluation of the Hypothesis That Choking/ALTE May Mimic Abusive Head Trauma.

Hansen JB, Frazier T, Moffatt M, Zinkus T, Anderst JD.

Acad Pediatr. 2017 May - Jun;17(4):362-367. doi: 10.1016/j.acap.2016.10.002. Epub 2016 Dec 22.

PMID:
28017711
3.

An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury.

Francis PJ, Calver DM, Barnfield P, Turner C, Dalton RN, Champion MP.

Eur J Pediatr. 2004 Jul;163(7):420-1. Epub 2004 Apr 9. No abstract available.

PMID:
15221473
4.

Abusive head trauma and the eye in infancy.

Watts P; Child maltreatment guideline working party of Royal College of Ophthalmologists UK.

Eye (Lond). 2013 Oct;27(10):1227-9. doi: 10.1038/eye.2013.192. Epub 2013 Aug 30. No abstract available.

5.

Genetic cholestasis, causes and consequences for hepatobiliary transport.

Jansen PL, Sturm E.

Liver Int. 2003 Oct;23(5):315-22. Review.

PMID:
14708891
6.

Nasobiliary drainage in an episode of intrahepatic cholestasis in a child with mild ABCB11 disease.

Zellos A, Lykopoulou L, Polydorou A, Tanou K, Jirsa M, Roma E, Knisely AS.

J Pediatr Gastroenterol Nutr. 2012 Jul;55(1):88-90. doi: 10.1097/MPG.0b013e31822f2bda. No abstract available.

PMID:
21822150
7.

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN.

J Hepatol. 2010 Jul;53(1):170-8. doi: 10.1016/j.jhep.2010.01.034. Epub 2010 Apr 13.

8.

Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.

van der Woerd WL, van Mil SW, Stapelbroek JM, Klomp LW, van de Graaf SF, Houwen RH.

Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53. doi: 10.1016/j.bpg.2010.07.010. Review.

PMID:
20955958
9.

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.

Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD.

Nat Commun. 2016 Feb 18;7:10713. doi: 10.1038/ncomms10713.

10.

Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations.

Soroka CJ, Boyer JL.

Mol Aspects Med. 2014 Jun;37:3-14. doi: 10.1016/j.mam.2013.05.001. Epub 2013 May 15. Review.

11.

[Childhood cholestasis and bile transporters].

Hierro L, Jara P.

Gastroenterol Hepatol. 2005 Aug-Sep;28(7):388-95. Review. Spanish.

PMID:
16137474
12.

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.

Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, Koning JH, De Jager-Krikken A, Kuipers F, Stellaard F, Bijleveld CM, Gouw A, Van Goor H, Thompson RJ, Müller M.

Gastroenterology. 1999 Dec;117(6):1370-9.

PMID:
10579978
13.

[Familial intrahepatic cholestasis. Novel advances].

Abenavoli L, De Maria V, DeSiena M, DiSalvo S, Giancotti F, Gravina T, Abenavoli SM.

Recenti Prog Med. 2007 Nov;98(11):569-73. Review. Italian.

PMID:
18044408
14.

Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump.

Kubitz R, Keitel V, Scheuring S, Köhrer K, Häussinger D.

J Clin Gastroenterol. 2006 Feb;40(2):171-5.

PMID:
16394881
15.

 Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing.

Vitale G, Pirillo M, Mantovani V, Marasco E, Aquilano A, Gamal N, Francalanci P, Conti F, Andreone P.

Ann Hepatol. 2016 Sep-Oct;15(5):795-800. doi: 10.5604/16652681.1212618.

16.

Bridging veins and autopsy findings in abusive head trauma.

Rambaud C.

Pediatr Radiol. 2015 Jul;45(8):1126-31. doi: 10.1007/s00247-015-3285-0. Epub 2015 Feb 20. Review.

PMID:
25698365
17.

Bile salt export pump (BSEP/ABCB11): trafficking and sorting disturbances.

Hayashi H, Sugiyama Y.

Curr Mol Pharmacol. 2013 Jul;6(2):95-103. Review.

PMID:
23876151
18.

Unilateral retinal hemorrhages and ipsilateral intracranial bleeds in nonaccidental trauma.

Paviglianiti JC, Donahue SP.

J AAPOS. 1999 Dec;3(6):383-4.

PMID:
10613587
19.

Current patterns of inflicted head injury in children.

Dashti SR, Decker DD, Razzaq A, Cohen AR.

Pediatr Neurosurg. 1999 Dec;31(6):302-6.

PMID:
10702730
20.

Abusive head trauma.

Brown SM.

Ophthalmology. 2011 Feb;118(2):430; author reply 430-1. doi: 10.1016/j.ophtha.2010.10.005. No abstract available.

PMID:
21292122

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