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Items: 1 to 20 of 80

1.

Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis.

Calvo PL, Brunati A, Spada M, Romagnoli R, Corso G, Parenti G, Rossi M, Baldi M, Carbonaro G, David E, Pucci A, Amoroso A, Salizzoni M.

Am J Transplant. 2014 Apr;14(4):960-5. doi: 10.1111/ajt.12645. Epub 2014 Mar 12.

2.

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G.

Am J Hum Genet. 2002 Oct;71(4):952-8. Epub 2002 Aug 20. Erratum in: Am J Hum Genet. 2003 Aug;73(2):445.

3.

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G.

Am J Med Genet A. 2005 Jan 15;132A(2):144-51. Review.

PMID:
15580635
4.

Cataract development in a young patient with lathosterolosis: a clinicopathologic case report.

Cavallini GM, Masini C, Chiesi C, Campi L, Rivasi F, Ferrari P.

Eur J Ophthalmol. 2009 Jan-Feb;19(1):139-42.

PMID:
19123163
5.

Clinical phenotype of lathosterolosis.

Rossi M, D'Armiento M, Parisi I, Ferrari P, Hall CM, Cervasio M, Rivasi F, Balli F, Vecchione R, Corso G, Andria G, Parenti G.

Am J Med Genet A. 2007 Oct 15;143A(20):2371-81.

PMID:
17853487
6.

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovárová M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD.

Hum Mol Genet. 2003 Jul 1;12(13):1631-41.

PMID:
12812989
7.

Sterol metabolism disorders and neurodevelopment-an update.

Kanungo S, Soares N, He M, Steiner RD.

Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114. Review.

PMID:
23798009
8.

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.

Irons M, Elias ER, Tint GS, Salen G, Frieden R, Buie TM, Ampola M.

Am J Med Genet. 1994 May 1;50(4):347-52.

PMID:
8209913
9.

Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

Herman GE, Kratz L.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):301-21. doi: 10.1002/ajmg.c.31340. Epub 2012 Oct 5. Review.

PMID:
23042573
10.

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes.

Shefer S, Salen G, Batta AK, Honda A, Tint GS, Irons M, Elias ER, Chen TC, Holick MF.

J Clin Invest. 1995 Oct;96(4):1779-85.

11.

Managing behavior for a child with autism in a body cast.

Chambers H, Becker RE, Hoffman MT, Hartley-McAndrew M, Stein MT.

J Dev Behav Pediatr. 2012 Jul;33(6):506-8. doi: 10.1097/DBP.0b013e31825ceab0.

PMID:
22635134
12.

Successful combined liver and kidney transplant for COACH syndrome and 5-yr follow-up.

Uemura T, Sanchez EQ, Ikegami T, Watkins D, Narasimhan G, McKenna GJ, Chinnakotla S, Dawson S 3rd, Randall HB, Levy MF, Goldstein RM, Klintmalm GB.

Clin Transplant. 2005 Dec;19(6):717-20.

PMID:
16313315
13.

[Reversible white matter lesions and antithyroid antibodies in the cerebrospinal fluid in Hashimoto's encephalopathy: a case report].

Wakai M, Nishikage H, Goshima K.

Rinsho Shinkeigaku. 2004 Jul;44(7):432-7. Japanese.

PMID:
15384704
14.

[Glutaric aciduria type 1 with normal evolution: follow-up of one case until adult age].

Pascual-Castroviejo I, Pascual-Pascual SI, Merinero B, Ugarte M, Garcia-Segura JM, Viaño J, Velazquez R.

Neurologia. 2005 May;20(4):189-93. Spanish.

PMID:
15891948
15.

Hardikar syndrome: a case requiring liver transplantation.

Maluf DG, Fisher RA, Fulcher AS, Posner MP.

Transplantation. 2002 Oct 15;74(7):1058-61.

PMID:
12394856
17.
18.

Human malformation syndromes due to inborn errors of cholesterol synthesis.

Porter FD.

Curr Opin Pediatr. 2003 Dec;15(6):607-13. Review.

PMID:
14631207
19.

Cholesterol metabolism deficiency.

Jira P.

Handb Clin Neurol. 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. Review.

PMID:
23622407
20.

Improved quality of life and unchanged magnetic resonance brain imaging after living donor liver transplantation for late-onset ornithine transcarbamylase deficiency: report of a case.

Kawagishi N, Satoh K, Enomoto Y, Akamatsu Y, Sekiguchi S, Satoh A, Fujimori K, Takasago Y, Ito T, Ohura T, Satomi S.

Surg Today. 2005;35(12):1087-91.

PMID:
16341494

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