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Items: 1 to 20 of 153

1.

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

Parazzini C, Arena S, Marchetti L, Menni F, Filocamo M, Verheijen FW, Mancini GM, Triulzi F, Parini R.

AJNR Am J Neuroradiol. 2003 Mar;24(3):398-400. No abstract available.

2.

Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease.

Sewell AC, Murphy HC, Iles RA.

Clin Chem. 2002 Feb;48(2):357-9. No abstract available.

3.

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 1;120A(1):28-33.

PMID:
12794688
4.

[Salla disease].

Christensen PS, Kaad PH, Ostergaard JR.

Ugeskr Laeger. 2005 May 23;167(21):2270-1. Danish. No abstract available.

PMID:
15962852
5.

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.

PMID:
16417876
6.

Lymphocytic vacuolization in sialic acid storage disease.

Kuskonmaz B, Unal S, Cördükcü E, Aydin H, Coskun T, Gurgey A, Gumruk F.

Am J Hematol. 2008 Oct;83(10):821. No abstract available.

7.

Infantile sialic acid storage disease and protein-losing gastroenteropathy.

Kirchner L, Kircher S, Salzer-Muhar U, Paschke E, Birnbacher R, Stöckler-Ipsiroglu S.

Pediatr Neurol. 2003 Apr;28(4):313-7.

PMID:
12849889
8.

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.

PMID:
15172001
9.

Contribution of magnetic resonance imaging in the evaluation of microcephaly.

Steinlin M, Zürrer M, Martin E, Boesch C, Largo RH, Boltshauser E.

Neuropediatrics. 1991 Nov;22(4):184-9.

PMID:
1775213
10.

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.

PMID:
15172005
11.

Prenatal diagnosis of free sialic acid storage disorders (SASD).

Aula N, Aula P.

Prenat Diagn. 2006 Aug;26(8):655-8.

PMID:
16715535
12.

The inborn errors of sialic acid metabolism and their laboratory investigation.

Gopaul KP, Crook MA.

Clin Lab. 2006;52(3-4):155-69. Review.

PMID:
16584062
13.

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.

Valianpour F, Abeling NG, Duran M, Huijmans JG, Kulik W.

Clin Chem. 2004 Feb;50(2):403-9. Epub 2003 Dec 18.

14.

A case of Salla disease with involvement of the cerebellar white matter.

Linnankivi T, Lönnqvist T, Autti T.

Neuroradiology. 2003 Feb;45(2):107-9. Epub 2003 Jan 16.

PMID:
12592494
15.

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.

Biancheri R, Verbeek E, Rossi A, Gaggero R, Roccatagliata L, Gatti R, van Diggelen O, Verheijen FW, Mancini GM.

Clin Genet. 2002 Jun;61(6):443-7.

PMID:
12121352
16.

Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman.

Michot JM, Sedel F, Giraudier S, Smiejan JM, Papo T.

J Neurol Neurosurg Psychiatry. 2008 Aug;79(8):963-4. doi: 10.1136/jnnp.2008.143677. Epub 2008 Mar 20. No abstract available.

PMID:
18356252
17.

Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD.

Am J Med Genet A. 2011 Apr;155A(4):840-4. doi: 10.1002/ajmg.a.33881. Epub 2011 Mar 15. Review.

PMID:
21412973
18.

Free sialic acid storage disease without sialuria.

Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R.

Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624.

19.

Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly.

Nassogne M, Henrot B, Aubert G, Bonnier C, Marie S, Saint-Martin C, Van den Berghe G, Sébire G, Vincent M.

Brain Dev. 2000 Sep;22(6):383-6.

PMID:
11042421
20.

Salla disease in Turkish children: severe and conventional type.

Coker M, Kalkan-Uçar S, Kitiş O, Uçar H, Gökşen-Simşek D, Darcan S, Gökben S.

Turk J Pediatr. 2009 Nov-Dec;51(6):605-9.

PMID:
20196397

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