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Items: 1 to 20 of 120

1.

Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis.

Gort L, Granell MR, Fernández G, Carreto P, Sanchez A, Coll MJ.

Prenat Diagn. 2012 Dec;32(12):1139-42. doi: 10.1002/pd.3972. Epub 2012 Sep 18.

PMID:
22991067
2.

Prenatal diagnosis of lysosomal storage diseases using fetal blood.

Groener JE, de Graaf FL, Poorthuis BJ, Kanhai HH.

Prenat Diagn. 1999 Oct;19(10):930-3.

PMID:
10521818
3.

Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.

Burin MG, Scholz AP, Gus R, Sanseverino MT, Fritsh A, Magalhães JA, Timm F, Barrios P, Chesky M, Coelho JC, Giugliani R.

Prenat Diagn. 2004 Aug;24(8):653-7.

PMID:
15305357
4.

Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.

Whybra C, Mengel E, Russo A, Bahlmann F, Kampmann C, Beck M, Eich E, Mildenberger E.

Orphanet J Rare Dis. 2012 Nov 8;7:86. doi: 10.1186/1750-1172-7-86. Review.

5.

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.

Kooper AJ, Janssens PM, de Groot AN, Liebrand-van Sambeek ML, van den Berg CJ, Tan-Sindhunata GB, van den Berg PP, Bijlsma EK, Smits AP, Wevers RA.

Clin Chim Acta. 2006 Sep;371(1-2):176-82. Epub 2006 May 3.

PMID:
16674934
6.

Hydrops fetalis: lysosomal storage disorders in extremis.

Stone DL, Sidransky E.

Adv Pediatr. 1999;46:409-40. Review.

PMID:
10645471
7.

[Hydrops fetalis as an indication for a systematic investigation into the presence of lysosomal storage diseases].

Janssens PM, de Groot AN, de Jong JG, Liebrand-van Sambeek ML, Smits A, Wevers RA.

Ned Tijdschr Geneeskd. 2004 Feb 7;148(6):264-8. Review. Dutch.

PMID:
15004952
8.

Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis).

Piraud M, Froissart R, Mandon G, Bernard A, Maire I.

Clin Chim Acta. 1996 Apr 30;248(2):143-55.

PMID:
8740579
9.

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Léticée N, Bessières-Grattagliano B, Dupré T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N, Ville Y, Vekemans M, Bouvier R, Seta N, Attié-Bitach T.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):253-7. doi: 10.1016/j.ymgme.2010.06.009. Epub 2010 Jun 22. Review.

PMID:
20638314
10.

Nonimmune hydrops fetalis part I: etiology and pathophysiology.

Randenberg AL.

Neonatal Netw. 2010 Sep-Oct;29(5):281-95. Review.

PMID:
20829175
11.

Lysosomal storage diseases presenting as transient or persistent hydrops fetalis.

Bonduelle M, Lissens W, Goossens A, De Catte L, Foulon W, Denis R, Jauniaux E, Liebaers I.

Genet Couns. 1991;2(4):227-32.

PMID:
1799421
12.

Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases.

Ramsay SL, Maire I, Bindloss C, Fuller M, Whitfield PD, Piraud M, Hopwood JJ, Meikle PJ.

Mol Genet Metab. 2004 Nov;83(3):231-8.

PMID:
15542394
13.

Nonimmune hydrops fetalis diagnosed during the second half of pregnancy in Southern China.

Liao C, Wei J, Li Q, Li J, Li L, Li D.

Fetal Diagn Ther. 2007;22(4):302-5. Epub 2007 Mar 15.

PMID:
17361085
14.

Lysosomal storage disease as an etiology of nonimmune hydrops.

Gimovsky AC, Luzi P, Berghella V.

Am J Obstet Gynecol. 2015 Mar;212(3):281-90. doi: 10.1016/j.ajog.2014.10.007. Epub 2014 Oct 8. Review.

PMID:
25305402
15.

Amniotic fluid amino acid levels in non-immune hydrops fetalis: a case-control study.

Erdemoğlu M, Kuyumcuoglu U, Guzel AI, Celik Y, Kale E.

Braz J Med Biol Res. 2011 Jul;44(7):725-8. Epub 2011 Jun 1.

16.

Nonimmune hydrops fetalis in a children's hospital: a six-year series.

Ng ZM, Seet MJ, Erng MN, Buendia F, Chang AS, Sriram B.

Singapore Med J. 2013 Sep;54(9):487-90.

17.

Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease.

Kattner E, Schäfer A, Harzer K.

Eur J Pediatr. 1997 Apr;156(4):292-5. Review.

PMID:
9128814
18.

Frequency of parvovirus B19 infection in nonimmune hydrops fetalis and utility of three diagnostic methods.

Essary LR, Vnencak-Jones CL, Manning SS, Olson SJ, Johnson JE.

Hum Pathol. 1998 Jul;29(7):696-701.

PMID:
9670826
19.

Prenatal diagnosis of lysosomal storage diseases.

Lake BD, Young EP, Winchester BG.

Brain Pathol. 1998 Jan;8(1):133-49.

PMID:
9458172
20.

The incidence of, and factors leading to, parvovirus B19-related hydrops fetalis following maternal infection; report of 10 cases and meta-analysis.

Yaegashi N, Niinuma T, Chisaka H, Watanabe T, Uehara S, Okamura K, Moffatt S, Sugamura K, Yajima A.

J Infect. 1998 Jul;37(1):28-35.

PMID:
9733374
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