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Results: 1 to 20 of 103

1.

A series of pregnancies in women with inherited metabolic disease.

Langendonk JG, Roos JC, Angus L, Williams M, Karstens FP, de Klerk JB, Maritz C, Ben-Omran T, Williamson C, Lachmann RH, Murphy E.

J Inherit Metab Dis. 2012 May;35(3):419-24. doi: 10.1007/s10545-011-9389-2. Epub 2011 Sep 15.

PMID:
21918856
[PubMed - indexed for MEDLINE]
2.

Ornithine transcarbamylase deficiency in pregnancy.

Cordero DR, Baker J, Dorinzi D, Toffle R.

J Inherit Metab Dis. 2005;28(2):237-40. Erratum in: J Inherit Metab Dis. 2005;28(5):811.

PMID:
15877212
[PubMed - indexed for MEDLINE]
3.

Management of ornithine transcarbamylase deficiency in pregnancy.

Mendez-Figueroa H, Lamance K, Sutton VR, Aagaard-Tillery K, Van den Veyver I.

Am J Perinatol. 2010 Nov;27(10):775-84. doi: 10.1055/s-0030-1254240. Epub 2010 May 10. Review.

PMID:
20458665
[PubMed - indexed for MEDLINE]
4.

Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.

Lipskind S, Loanzon S, Simi E, Ouyang DW.

J Perinatol. 2011 Oct;31(10):682-4. doi: 10.1038/jp.2011.23.

PMID:
21956151
[PubMed - indexed for MEDLINE]
5.

Hydrocephalus and the reproductive health of women: the medical implications of maternal shunt dependency in 70 women and 138 pregnancies.

Liakos AM, Bradley NK, Magram G, Muszynski C.

Neurol Res. 2000 Jan;22(1):69-88.

PMID:
10672583
[PubMed - indexed for MEDLINE]
6.

An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.

Quintero-Rivera F, Deignan JL, Peredo J, Grody WW, Crandall B, Sims M, Cederbaum SD.

Mol Genet Metab. 2010 Dec;101(4):413-6. doi: 10.1016/j.ymgme.2010.08.008. Epub 2010 Aug 14.

PMID:
20817516
[PubMed - indexed for MEDLINE]
7.

[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry].

Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Jin J, Gu XF.

Zhonghua Yi Xue Za Zhi. 2008 Aug 5;88(30):2122-6. Chinese.

PMID:
19080473
[PubMed - indexed for MEDLINE]
8.

The outcome of 72 pregnancies in 55 women with cystic fibrosis in the United Kingdom 1977-1996.

Edenborough FP, Mackenzie WE, Stableforth DE.

BJOG. 2000 Feb;107(2):254-61.

PMID:
10688510
[PubMed - indexed for MEDLINE]
9.

GC/MS analysis of urine in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Shinka T, Kuhara T, Inoue Y, Matsumoto M, Matsumoto I, Nakamura H, Irimichi H, Hasumi K, Endo A.

Acta Paediatr Jpn. 1992 Apr;34(2):157-65.

PMID:
1377861
[PubMed - indexed for MEDLINE]
10.

Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts.

Sovik O, Sweetman L, Gibson KM, Nyhan WL.

Am J Hum Genet. 1984 Jul;36(4):791-801.

PMID:
6475954
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Reproductive effects of maternal metabolic disorders: implications for pediatrics and obstetrics.

Levy HL.

Turk J Pediatr. 1996 Jul-Sep;38(3):335-44. Review.

PMID:
8827903
[PubMed - indexed for MEDLINE]
12.

[3-Hydroxy-3-methyl-glutaryl-CoA-lyase deficiency as coma etiology in the neonatal period: case report].

Casella EB, Martins FR, Miura IK, Vieira MA, Porta G.

Arq Neuropsiquiatr. 1998 Sep;56(3A):472-5. Portuguese.

PMID:
9754431
[PubMed - indexed for MEDLINE]
13.

Pregnancy and its management in women with GSD type III - a single centre experience.

Ramachandran R, Wedatilake Y, Coats C, Walker F, Elliott P, Lee PJ, Lachmann RH, Murphy E.

J Inherit Metab Dis. 2012 Mar;35(2):245-51. doi: 10.1007/s10545-011-9384-7. Epub 2011 Sep 7.

PMID:
21947574
[PubMed - indexed for MEDLINE]
14.

[Application of gas chromatography-mass spectrometry analysis on urine filter paper in the high-risk screening and diagnosis of inherited metabolic diseases].

Luo XP, Wang MT, Wei H, Liang Y, Wang HW, Lin HH, Dong YS, Liu WJ, Fang JM, Ning Q.

Zhonghua Er Ke Za Zhi. 2003 Apr;41(4):245-8. Chinese.

PMID:
14754523
[PubMed - indexed for MEDLINE]
15.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.

Gibson KM, Breuer J, Nyhan WL.

Eur J Pediatr. 1988 Dec;148(3):180-6. Review.

PMID:
3063529
[PubMed - indexed for MEDLINE]
16.

[Hydroxy-methyl-glutaryl-coenzyme A lyase deficiency manifesting as Reye's syndrome in a 3-year-old girl].

Karcher C, Rousselot JM, Lefebvre E, Vidailhet M.

Pediatrie. 1993;48(5):385-7. French.

PMID:
7777393
[PubMed - indexed for MEDLINE]
17.

Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.

Levy HL, Vargas JE, Waisbren SE, Kurczynski TW, Roeder ER, Schwartz RS, Rosengren S, Prasad C, Greenberg CR, Gilfix BM, MacGregor D, Shih VE, Bao L, Kraus JP.

J Inherit Metab Dis. 2002 Aug;25(4):299-314.

PMID:
12227460
[PubMed - indexed for MEDLINE]
18.

Conservative management and pregnancy outcome in diethylstilbestrol-exposed women with and without gross genital tract abnormalities.

Levine RU, Berkowitz KM.

Am J Obstet Gynecol. 1993 Nov;169(5):1125-9.

PMID:
8238171
[PubMed - indexed for MEDLINE]
19.

Outcome of pregnancy in Asian women with systemic lupus erythematosus: experience of a single perinatal centre in Singapore.

Tan LK, Tan HK, Lee CT, Tan AS.

Ann Acad Med Singapore. 2002 May;31(3):290-5.

PMID:
12061288
[PubMed - indexed for MEDLINE]
20.

Maternal shunt dependency: implications for obstetric care, neurosurgical management, and pregnancy outcomes and a review of selected literature.

Bradley NK, Liakos AM, McAllister JP 2nd, Magram G, Kinsman S, Bradley MK.

Neurosurgery. 1998 Sep;43(3):448-60; discussion 460-1. Review.

PMID:
9733300
[PubMed - indexed for MEDLINE]
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