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Items: 1 to 20 of 426

1.

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
2.

[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
3.

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
4.

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
5.

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
6.

Hydrops fetalis: lysosomal storage disorders in extremis.

Stone DL, Sidransky E.

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

PMID:
10645471
7.

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
8.

Prenatal diagnosis of lysosomal storage diseases.

Lake BD, Young EP, Winchester BG.

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

PMID:
9458172
9.

Non-immune hydrops fetalis: A prospective study of 53 cases.

Moreno CA, Kanazawa T, Barini R, Nomura ML, Andrade KC, Gomes CP, Heinrich JK, Giugliani R, Burin M, Cavalcanti DP.

Am J Med Genet A. 2013 Dec;161A(12):3078-86. doi: 10.1002/ajmg.a.36171. Epub 2013 Aug 16.

PMID:
24039125
10.

Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.

Lefebvre G, Wehbe G, Heron D, Vautjoer Brouzes D, Choukroun JB, Darbois Y.

Genet Couns. 1999;10(3):277-84.

PMID:
10546100
11.

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
12.

Etiology and outcome of hydrops fetalis.

Ismail KM, Martin WL, Ghosh S, Whittle MJ, Kilby MD.

J Matern Fetal Med. 2001 Jun;10(3):175-81.

PMID:
11444786
13.

Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis.

Lee BH, Kim YM, Kim JH, Kim GH, Lee BS, Kim CJ, Yoo HJ, Yoo HW.

Brain Dev. 2014 Feb;36(2):171-5. doi: 10.1016/j.braindev.2013.01.012. Epub 2013 Feb 19.

PMID:
23433491
14.

Analysis of outcome in hydrops fetalis in relation to gestational age at diagnosis, cause and treatment.

Sohan K, Carroll SG, De La Fuente S, Soothill P, Kyle P.

Acta Obstet Gynecol Scand. 2001 Aug;80(8):726-30.

PMID:
11531615
15.

Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis.

Cheng Y, Verp MS, Knutel T, Hibbard JU.

J Perinat Med. 2003;31(6):535-7.

PMID:
14711113
16.

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.

17.

beta-Glucuronidase deficiency as a cause of fetal hydrops.

Kagie MJ, Kleijer WJ, Huijmans JG, Maaswinkel-Mooy P, Kanhai HH.

Am J Med Genet. 1992 Mar 1;42(5):693-5.

PMID:
1632440
18.

Nonimmune hydrops fetalis associated with genetic abnormalities.

Jauniaux E, Van Maldergem L, De Munter C, Moscoso G, Gillerot Y.

Obstet Gynecol. 1990 Mar;75(3 Pt 2):568-72. Review.

PMID:
2406672
19.

Prenatal eradication of Hb Bart's hydrops fetalis.

Tongsong T, Wanapirak C, Sirivatanapa P, Sa-nguansermsri T, Sirichotiyakul S, Piyamongkol W, Chanprapaph P, Steger HF, Sekararithi R, Tuggapichitti A.

J Reprod Med. 2001 Jan;46(1):18-22.

PMID:
11209626
20.

Recurrent non-immune fetal hydrops: A case report.

Goh SL, Tan JV, Kwek KY, Yeo GS.

Ann Acad Med Singapore. 2006 Oct;35(10):726-8.

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