184 related articles for article (PubMed ID: 29654786)
1. Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.
Kang E; Kim YM; Heo SH; Jung E; Kim KS; Yoo HJ; Kim EN; Kim CJ; Kim GH; Lee BH
Clin Chim Acta; 2018 Jul; 482():199-202. PubMed ID: 29654786
[TBL] [Abstract][Full Text] [Related]
2. Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the
Hasnain A; Burnett S; Agatep R; Spriggs E; Chodirker B; Mhanni AAA
Cold Spring Harb Mol Case Stud; 2021 Oct; 7(5):. PubMed ID: 34667062
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 23433491
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 9128814
[TBL] [Abstract][Full Text] [Related]
5. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.
Al-Kouatly HB; Felder L; Makhamreh MM; Kass SL; Vora NL; Berghella V; Berger S; Wenger DA; Luzi P
Prenat Diagn; 2020 May; 40(6):738-745. PubMed ID: 32134517
[TBL] [Abstract][Full Text] [Related]
6. Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene.
Žigman T; Petković Ramadža D; Lušić M; Zekušić M; Ninković D; Gardijan D; Potočki K; Omerza L; Beljan L; Žarković K; Kerkhof J; Ljubojević M; de Sain-van der Velden M; Vuković J; Fumić K; Sadiković B; Barić I
J Pediatr Endocrinol Metab; 2018 Oct; 31(10):1155-1159. PubMed ID: 30243016
[TBL] [Abstract][Full Text] [Related]
7. Hydrops fetalis: lysosomal storage disorders in extremis.
Stone DL; Sidransky E
Adv Pediatr; 1999; 46():409-40. PubMed ID: 10645471
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.
Landau D; Cohen D; Shalev H; Pinsk V; Yerushalmi B; Zeigler M; Birk OS
Mol Genet Metab; 2004 Jun; 82(2):167-72. PubMed ID: 15172005
[TBL] [Abstract][Full Text] [Related]
9. Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
Kleta R; Aughton DJ; Rivkin MJ; Huizing M; Strovel E; Anikster Y; Orvisky E; Natowicz M; Krasnewich D; Gahl WA
Am J Med Genet A; 2003 Jul; 120A(1):28-33. PubMed ID: 12794688
[TBL] [Abstract][Full Text] [Related]
10. Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.
Iyer NS; Gimovsky AC; Ferreira CR; Critchlow E; Al-Kouatly HB
Clin Genet; 2021 Nov; 100(5):493-503. PubMed ID: 34057202
[TBL] [Abstract][Full Text] [Related]
11. Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
Kleta R; Morse RP; Orvisky E; Krasnewich D; Alroy J; Ucci AA; Bernardini I; Wenger DA; Gahl WA
Mol Genet Metab; 2004 Jun; 82(2):137-43. PubMed ID: 15172001
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 15305357
[TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis of free sialic acid storage disorders (SASD).
Aula N; Aula P
Prenat Diagn; 2006 Aug; 26(8):655-8. PubMed ID: 16715535
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 25305402
[TBL] [Abstract][Full Text] [Related]
15. Free sialic acid storage disorder: Progress and promise.
Huizing M; Hackbarth ME; Adams DR; Wasserstein M; Patterson MC; Walkley SU; Gahl WA;
Neurosci Lett; 2021 Jun; 755():135896. PubMed ID: 33862140
[TBL] [Abstract][Full Text] [Related]
16. Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases.
Dugan RB; Pletneva MA; Salari K; Berman DR; Treadwell MC
Prenat Diagn; 2014 Feb; 34(2):199-201. PubMed ID: 24284886
[No Abstract] [Full Text] [Related]
17. Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
Biancheri R; Rossi A; Verbeek HA; Schot R; Corsolini F; Assereto S; Mancini GM; Verheijen FW; Minetti C; Filocamo M
Neurogenetics; 2005 Dec; 6(4):195-9. PubMed ID: 16170568
[TBL] [Abstract][Full Text] [Related]
18. Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
Tarailo-Graovac M; Drögemöller BI; Wasserman WW; Ross CJ; van den Ouweland AM; Darin N; Kollberg G; van Karnebeek CD; Blomqvist M
Orphanet J Rare Dis; 2017 Feb; 12(1):28. PubMed ID: 28187749
[TBL] [Abstract][Full Text] [Related]
19. Novel form of intermediate salla disease: clinical and neuroimaging features.
Morse RP; Kleta R; Alroy J; Gahl WA
J Child Neurol; 2005 Oct; 20(10):814-6. PubMed ID: 16417876
[TBL] [Abstract][Full Text] [Related]
20. [Free sialic acid storage disorders with fetal hydrops in a neonate].
Mao WY; He Y; Zhang L; He QZ; Sun LM; Zhang R
Zhongguo Dang Dai Er Ke Za Zhi; 2023 May; 25(5):546-550. PubMed ID: 37272184
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
