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Results: 1 to 20 of 206

1.

Fucosidosis: MRI and MRS findings.

Oner AY, Cansu A, Akpek S, Serdaroglu A.

Pediatr Radiol. 2007 Oct;37(10):1050-2. Epub 2007 Aug 18.

PMID:
17704911
[PubMed - indexed for MEDLINE]
2.

Evolution of the neuroimaging changes in fucosidosis type II.

Terespolsky D, Clarke JT, Blaser SI.

J Inherit Metab Dis. 1996;19(6):775-81.

PMID:
8982951
[PubMed - indexed for MEDLINE]
3.

MRI and 1H-MRS findings of three patients with Sjögren-Larsson syndrome.

Nakayama M, Távora DG, Alvim TC, Araújo AC, Gama RL.

Arq Neuropsiquiatr. 2006 Jun;64(2B):398-401.

PMID:
16917608
[PubMed - indexed for MEDLINE]
Free Article
4.

Neuroimaging findings in infantile GM1 gangliosidosis.

Erol I, Alehan F, Pourbagher MA, Canan O, Vefa Yildirim S.

Eur J Paediatr Neurol. 2006 Sep-Nov;10(5-6):245-8. Epub 2006 Oct 17.

PMID:
17052929
[PubMed - indexed for MEDLINE]
5.

Histology and electron microscopy of fucosidosis of the skin. Subtle clues to diagnosis by electron microscopy.

Breier F, Hobisch G, Fang-Kircher S, Braun F, Paschke E, Jurecka W.

Am J Dermatopathol. 1995 Aug;17(4):379-83.

PMID:
8600803
[PubMed - indexed for MEDLINE]
6.

Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe's disease.

Zarifi MK, Tzika AA, Astrakas LG, Poussaint TY, Anthony DC, Darras BT.

J Child Neurol. 2001 Jul;16(7):522-6.

PMID:
11453451
[PubMed - indexed for MEDLINE]
7.

Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings.

Aslan M, Alkan A, Yakinci C, Sonmezgoz E, Bicak U, Zorludemir S.

Brain Dev. 2005 Jun;27(4):308-10.

PMID:
15862197
[PubMed - indexed for MEDLINE]
8.

Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.

Prietsch V, Arnold S, Kraegeloh-Mann I, Kuehr J, Santer R.

Neuropediatrics. 2008 Feb;39(1):51-4. doi: 10.1055/s-2008-1077048.

PMID:
18504684
[PubMed - indexed for MEDLINE]
9.

A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings.

Inui K, Akagi M, Nishigaki T, Muramatsu T, Tsukamoto H, Okada S.

Brain Dev. 2000 Jan;22(1):47-9.

PMID:
10761834
[PubMed - indexed for MEDLINE]
10.

Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease.

Provenzale JM, Barboriak DP, Sims K.

AJNR Am J Neuroradiol. 1995 Apr;16(4 Suppl):809-13.

PMID:
7611045
[PubMed - indexed for MEDLINE]
Free Article
11.

Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine.

Wilken B, Dechent P, Hanefeld F, Frahm J.

Eur J Paediatr Neurol. 2008 Jan;12(1):56-60. Epub 2007 Jul 10.

PMID:
17625939
[PubMed - indexed for MEDLINE]
12.

MR brain imaging of fucosidosis type I.

Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A.

AJNR Am J Neuroradiol. 2001 Apr;22(4):777-80.

PMID:
11290499
[PubMed - indexed for MEDLINE]
Free Article
13.

Fucosidosis: immunological studies and chronological neuroradiological changes.

Ismail EA, Rudwan M, Shafik MH.

Acta Paediatr. 1999 Feb;88(2):224-7.

PMID:
10102160
[PubMed - indexed for MEDLINE]
14.

Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease.

Vanhanen SL, Puranen J, Autti T, Raininko R, Liewendahl K, Nikkinen P, Santavuori P, Suominen P, Vuori K, Häkkinen AM.

Neuropediatrics. 2004 Feb;35(1):27-35.

PMID:
15002049
[PubMed - indexed for MEDLINE]
15.

Spectrum of magnetic resonance imaging findings in a family with giant axonal neuropathy confirmed by genetic studies.

Ravishankar S, Goel G, Rautenstrauss CP, Nalini A.

Neurol India. 2009 Mar-Apr;57(2):181-4. doi: 10.4103/0028-3886.51290.

PMID:
19439850
[PubMed - indexed for MEDLINE]
Free Article
16.
17.

Characteristic MR spectroscopy in fucosidosis: in vitro investigation.

Mamourian AC, Hopkin JR, Chawla S, Poptani H.

Pediatr Radiol. 2010 Aug;40(8):1446-9. doi: 10.1007/s00247-010-1593-y. Epub 2010 Mar 25.

PMID:
20336288
[PubMed - indexed for MEDLINE]
18.

Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.

DiCioccio RA, Darby JK, Willems PJ.

Biochem Genet. 1989 Jun;27(5-6):279-90.

PMID:
2803224
[PubMed - indexed for MEDLINE]
19.

Merosin-positive congenital muscular dystrophy: neuroimaging findings.

Matta AP, Gonsalves Mde C.

Arq Neuropsiquiatr. 2007 Mar;65(1):167-9.

PMID:
17420850
[PubMed - indexed for MEDLINE]
Free Article
20.

Fucosidosis with hypothyroidism: a case report.

Onenli-Mungan N, Ozer G, Altunbaşak S, Besley G, Yüksel B, Topaloğlu AK, Soyupak S.

Turk J Pediatr. 2004 Apr-Jun;46(2):170-3.

PMID:
15214749
[PubMed - indexed for MEDLINE]
Free Article

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