These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. 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. PubMed ID: 10438195 [TBL] [Abstract][Full Text] [Related]
11. Multimodality evoked potentials and EEG in a case of cherry red spot-myoclonus syndrome and alpha-neuraminidase deficiency (sialidosis type 1). Louboutin JP; Nogues B; Caillaud C; Elie B Eur Neurol; 1995; 35(3):175-7. PubMed ID: 7628501 [No Abstract] [Full Text] [Related]
12. Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria. Ledvinová J; Poupĕtová H; Elleder M; Tichý J; Pĕnicková V; Harzer K J Inherit Metab Dis; 1994; 17(1):118-9. PubMed ID: 8051919 [No Abstract] [Full Text] [Related]
13. [Two siblings with adult-onset sialidosis type I (cherry-red spot-myoclonus syndrome)]. Tana T; Komine Y; Kanzato N; Kawazoe N; Fukiyama K Rinsho Shinkeigaku; 1995 Jul; 35(7):803-5. PubMed ID: 8777807 [TBL] [Abstract][Full Text] [Related]
15. [Thin-layer chromatography of urine oligosaccharides in diagnosis of some lysosomal storage disorders]. Lugowska A; Tylki-Szymańska A; Sawnor-Korszyńska D Pediatr Pol; 1995 Oct; 70(10):847-55. PubMed ID: 8649932 [TBL] [Abstract][Full Text] [Related]
16. Sialidosis: the cherry-red spot--myoclonus syndrome. Kirkham TH; Coupland SG; Guitton D Can J Ophthalmol; 1980 Jan; 15(1):35-9. PubMed ID: 7378886 [TBL] [Abstract][Full Text] [Related]
17. [Analysis of molecular microheterogeneity of plasma glycoproteins in a patient with sialidosis 1]. Zakharova ET; Puchkova LV; Shavlovskiĭ MM; Neuĭmina MV; Ruzhdiĭ EP; Gaĭtskhoki VS Vopr Med Khim; 1998; 44(1):98-105. PubMed ID: 9575619 [TBL] [Abstract][Full Text] [Related]
18. Mucolipidosis I, the cherry red-spot--myoclonus syndrome and neuraminidase deficiency. Spranger J; Cantz M Birth Defects Orig Artic Ser; 1978; 14(6B):105-12. PubMed ID: 728556 [No Abstract] [Full Text] [Related]
19. Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobility of some enzymes known to be glycoproteins. II. Enzymes studies. Swallow DM; Evans L; Stewart G; Thomas PK; Abrams JD Ann Hum Genet; 1979 Jul; 43(1):27-35. PubMed ID: 496393 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]