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Items: 1 to 20 of 112

1.

Lysosomal storage disorders in the newborn.

Staretz-Chacham O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E.

Pediatrics. 2009 Apr;123(4):1191-207. doi: 10.1542/peds.2008-0635. Review.

2.

Hydrops fetalis: lysosomal storage disorders in extremis.

Stone DL, Sidransky E.

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

PMID:
10645471
3.

Perinatal-lethal Gaucher disease presenting as hydrops fetalis.

BenHamida E, Ayadi I, Ouertani I, Chammem M, Bezzine A, BenTmime R, Attia L, Mrad R, Marrakchi Z.

Pan Afr Med J. 2015 Jun 10;21:110. doi: 10.11604/pamj.2015.21.110.7052.

4.

[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
5.

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
6.

Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly.

vom Dahl S, Mengel E.

Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):619-28. doi: 10.1016/j.bpg.2010.09.001. Review.

PMID:
20955964
7.

Lysosomal disorders.

Wraith JE.

Semin Neonatol. 2002 Feb;7(1):75-83. Review.

PMID:
12069540
8.

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
9.

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.

PMID:
22991067
10.

Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant.

Sergi C, Beedgen B, Kopitz J, Zilow E, Zoubaa S, Otto HF, Cantz M, Linderkamp O.

Am J Perinatol. 1999;16(3):133-41.

PMID:
10438195
11.

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.

PMID:
23433491
12.

Congenital sialidosis.

Ovali F, Samanci N, Güray A, Akdoğan Z, Akdeniz C, Dağoğlu T, Petorak I.

Turk J Pediatr. 1998 Jul-Sep;40(3):447-51.

PMID:
9763912
13.

Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities.

Hoffmann B, Mayatepek E.

Neuropediatrics. 2005 Oct;36(5):285-9. Review.

PMID:
16217702
14.

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.

PMID:
24039125
15.

Psychiatric and behavioral manifestations of lysosomal storage disorders.

Staretz-Chacham O, Choi JH, Wakabayashi K, Lopez G, Sidransky E.

Am J Med Genet B Neuropsychiatr Genet. 2010 Oct 5;153B(7):1253-65. doi: 10.1002/ajmg.b.31097. Review.

PMID:
20872765
16.

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.

Mechtler TP, Stary S, Metz TF, De Jesús VR, Greber-Platzer S, Pollak A, Herkner KR, Streubel B, Kasper DC.

Lancet. 2012 Jan 28;379(9813):335-41. doi: 10.1016/S0140-6736(11)61266-X.

PMID:
22133539
17.

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
18.

The clinical management of Type 2 Gaucher disease.

Weiss K, Gonzalez AN, Lopez G, Pedoeim L, Groden C, Sidransky E.

Mol Genet Metab. 2015 Feb;114(2):110-22. doi: 10.1016/j.ymgme.2014.11.008. Review.

19.

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.

PMID:
16674934
20.

Newborn screening of lysosomal storage disorders.

Marsden D, Levy H.

Clin Chem. 2010 Jul;56(7):1071-9. doi: 10.1373/clinchem.2009.141622. Review.

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