184 related articles for article (PubMed ID: 29654786)
41. Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.
van den Bosch J; Oemardien LF; Srebniak MI; Piraud M; Huijmans JG; Verheijen FW; Ruijter GJ
J Inherit Metab Dis; 2011 Oct; 34(5):1069-73. PubMed ID: 21617927
[TBL] [Abstract][Full Text] [Related]
42. Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients.
Hale LP; van de Ven CJ; Wenger DA; Bradford WD; Kahler SG
Pediatr Pathol Lab Med; 1995; 15(3):443-53. PubMed ID: 8597831
[TBL] [Abstract][Full Text] [Related]
43. 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; 7():86. PubMed ID: 23137060
[TBL] [Abstract][Full Text] [Related]
44. Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.
Aula N; Jalanko A; Aula P; Peltonen L
Mol Genet Metab; 2002; 77(1-2):99-107. PubMed ID: 12359136
[TBL] [Abstract][Full Text] [Related]
45. Sialic acid storage disease and related disorders.
Strehle EM
Genet Test; 2003; 7(2):113-21. PubMed ID: 12885332
[TBL] [Abstract][Full Text] [Related]
46. Characterization of newborns with nonimmune hydrops fetalis admitted to a neonatal intensive care unit.
Mascaretti RS; Falcão MC; Silva AM; Vaz FA; Leone CR
Rev Hosp Clin Fac Med Sao Paulo; 2003; 58(3):125-32. PubMed ID: 12894308
[TBL] [Abstract][Full Text] [Related]
47. Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis.
Surmeli-Onay O; Yakarisik S; Korkmaz A; Akcoren Z; Yuce A; Runz H; Stampfer M; Yurdakok M
Pediatr Neonatol; 2013 Oct; 54(5):344-7. PubMed ID: 23597521
[TBL] [Abstract][Full Text] [Related]
48. Report of fourteen cases of nonimmune hydrops fetalis in association with hemorrhagic endovasculitis of the placenta.
Novak PM; Sander CM; Yang SS; von Oeyen PT
Am J Obstet Gynecol; 1991 Oct; 165(4 Pt 1):945-50. PubMed ID: 1951560
[TBL] [Abstract][Full Text] [Related]
49. A case of recurrent infantile polycystic kidney associated with hydrops fetalis.
Kim CK; Kim SK; Yang YH; Lee MS; Yoon JH; Park CI
Yonsei Med J; 1989; 30(1):95-103. PubMed ID: 2741477
[TBL] [Abstract][Full Text] [Related]
50. Prenatal hydrops foetalis associated with infantile free sialic acid storage disease.
Chock VY; Milan KE; Folkins AK; Hazard FK; Bernstein JA; Hintz SR
J Obstet Gynaecol; 2015; 35(8):850-2. PubMed ID: 26076308
[No Abstract] [Full Text] [Related]
51. Functional characterization of vesicular excitatory amino acid transport by human sialin.
Miyaji T; Omote H; Moriyama Y
J Neurochem; 2011 Oct; 119(1):1-5. PubMed ID: 21781115
[TBL] [Abstract][Full Text] [Related]
52. 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. PubMed ID: 10546100
[TBL] [Abstract][Full Text] [Related]
53. 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. PubMed ID: 1799421
[TBL] [Abstract][Full Text] [Related]
54. 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. PubMed ID: 10521818
[TBL] [Abstract][Full Text] [Related]
55. Teaching NeuroImage: A New Imaging Finding in a Boy With Salla Disease Caused by a Pathogenic Variant in the
Gupta J; Reddy N; Mankad K; Kabra U; Bhandari A; Bagarhatta M; Gupta A
Neurology; 2023 Oct; 101(14):631-632. PubMed ID: 37527937
[No Abstract] [Full Text] [Related]
56. Salla disease and ISSD--what does the future hold?
Strehle EM
Mol Genet Metab; 2004 Jun; 82(2):99-100. PubMed ID: 15171996
[No Abstract] [Full Text] [Related]
57. Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.
Mochel F; Engelke UF; Barritault J; Yang B; McNeill NH; Thompson JN; Vanderver A; Wolf NI; Willemsen MA; Verheijen FW; Seguin F; Wevers RA; Schiffmann R
Neurology; 2010 Jan; 74(4):302-5. PubMed ID: 20101035
[TBL] [Abstract][Full Text] [Related]
58. A Rare Association of Non-Compaction of the Ventricular Myocardium, and Non-Immune Hydrops Fetalis.
Nandyal R; Moorthy G
J Okla State Med Assoc; 2016; 109(4-5):146-50. PubMed ID: 27328555
[TBL] [Abstract][Full Text] [Related]
59. Hemophagocytic lymphohistiocytosis presenting with nonimmune hydrops fetalis.
Malloy CA; Polinski C; Alkan S; Manera R; Challapalli M
J Perinatol; 2004 Jul; 24(7):458-60. PubMed ID: 15224121
[TBL] [Abstract][Full Text] [Related]
60. A case of galactosialidosis with a homozygous Q49R point mutation.
Matsumoto N; Gondo K; Kukita J; Higaki K; Paragison RC; Nanba E
Brain Dev; 2008 Oct; 30(9):595-8. PubMed ID: 18396002
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
