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Results of search for 'su:"Fucosidosis"', page 2 of 8
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Authors
Akagi, M
Allen, H
Alroy, J
Anson, D S
Cragg, H
Darby, J K
DiCioccio, R A
Durand, P
Fang-Kircher, S
Farrow, B R
Filocamo, M
Fukushima, H
Healy, P J
O'Brien, J S
Seo, H C
Stewart, G J
Taylor, R M
Tiver, K
Willems, P J
Yang, M
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Animals
Base Sequence
Brain
Child
Child, Preschool
Dogs
Female
Fucosidosis
Humans
Infant
Male
Mutation
alpha-L-Fucosidase
complications
diagnosis
enzymology
genetics
metabolism
methods
pathology
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Your search returned 154 results.
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21.
[Fucosidosis].
[electronic resource]
by
Yamaguchi, S
Producer:
19980925
In:
Ryoikibetsu shokogun shirizu
no. 19 Pt 2
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22.
Fucosidosis in a family of American-bred English Springer Spaniels.
[electronic resource]
by
Smith, M O
Wenger, D A
Hill, S L
Matthews, J
Producer:
19970211
In:
Journal of the American Veterinary Medical Association
vol. 209
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23.
Improvement in the neurologic signs and storage lesions of fucosidosis in dogs given marrow transplants at an early age.
[electronic resource]
by
Taylor, R M
Stewart, G J
Farrow, B R
Producer:
19891215
In:
Transplantation proceedings
vol. 21
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24.
Diagnosis of fucosidosis through a skin rash.
[electronic resource]
by
Tsukadaira, Akihiro
Hirose, Yoshiki
Aoki, Hajime
Ichikawa, Kazuo
Sakurai, Akihiro
Fukuzawa, Masao
Producer:
20051223
In:
Internal medicine (Tokyo, Japan)
vol. 44
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25.
A single-base deletion mutation in a Turkish patient with fucosidosis.
[electronic resource]
by
Seo, H C
Kunze, J
Willems, P J
Kim, A H
Hanefeld, F
O'Brien, J S
Producer:
19941010
In:
Human mutation
vol. 3
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26.
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.
[electronic resource]
by
Wali, Gautam
Wali, G M
Sue, Carolyn M
Kumar, Kishore R
Producer:
20200603
In:
Neuropediatrics
vol. 50
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27.
Characteristic MR spectroscopy in fucosidosis: in vitro investigation.
[electronic resource]
by
Mamourian, Alex C
Hopkin, Jeremy R
Chawla, Sanjeev
Poptani, Harish
Producer:
20101018
In:
Pediatric radiology
vol. 40
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28.
Fucosidosis type 3 with angiokeratoma corporis diffusum.
[electronic resource]
by
Honjoh, M
Yamaguchi, S
Kohda, N
Mori, Y
Nishimura, H
Producer:
19851015
In:
The Journal of dermatology
vol. 12
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29.
Fucosidosis in a Chinese boy: a case report and literature review.
[electronic resource]
by
Wang, Lingxing
Yang, Meili
Hong, Shanyan
Tang, Ting
Zhuang, Jiaxin
Huang, Honghong
Producer:
20210106
In:
The Journal of international medical research
vol. 48
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30.
Fucosidosis with Pathogenic Variant in FUCA1 Gene.
[electronic resource]
by
Gowda, Vykuntaraju K
Srinivasan, Varunvenkat M
Vegda, Hemadri
Bhat, Maya
Producer:
20210427
In:
Indian journal of pediatrics
vol. 87
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31.
A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene.
[electronic resource]
by
Fleming, C J
Sinclair, D U
White, E J
Winchester, B
Whiteford, M L
Connor, J M
Producer:
19981207
In:
Journal of inherited metabolic disease
vol. 21
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32.
Fucosidosis revisited: a review of 77 patients.
[electronic resource]
by
Willems, P J
Gatti, R
Darby, J K
Romeo, G
Durand, P
Dumon, J E
O'Brien, J S
Producer:
19910509
In:
American journal of medical genetics
vol. 38
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33.
Angiokeratoma corporis diffusum in fucosidosis.
[electronic resource]
by
George, S
Graham-Brown, R A
Producer:
19950302
In:
Journal of the Royal Society of Medicine
vol. 87
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34.
A nonsense mutation in two German patients with fucosidosis.
[electronic resource]
by
Seo, H C
Heidemann, P H
Lutz, E
O'Brien, J S
Producer:
19951214
In:
Human mutation
vol. 6
Online resources:
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35.
Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin.
[electronic resource]
by
Gautschi, Matthias
Merlini, Laura
Calza, Anne-Marie
Hayflick, Susan
Nuoffer, Jean-Marc
Fluss, Joel
Producer:
20150202
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
vol. 18
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36.
A 66-basepair insertion in exon 6 of the alpha-L-fucosidase gene of a fucosidosis patient.
[electronic resource]
by
Seo, H C
Yang, M
Kim, A H
O'Brien, J S
DiCioccio, R A
Gordon, B A
Producer:
19961017
In:
Human mutation
vol. 7
Online resources:
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37.
Specific activity of alpha-L-fucosidase in sera with phenotypes of either low, intermediate, or high total enzyme activity and in a fucosidosis serum.
[electronic resource]
by
DiCioccio, R A
Barlow, J J
Matta, K L
Producer:
19860512
In:
Biochemical genetics
vol. 24
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38.
A case of chronic infantile type of fucosidosis: clinical and magnetic resonance image findings.
[electronic resource]
by
Inui, K
Akagi, M
Nishigaki, T
Muramatsu, T
Tsukamoto, H
Okada, S
Producer:
20000531
In:
Brain & development
vol. 22
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39.
Hypomyelination with T2-hypointense globi pallidi in a child with fucosidosis.
[electronic resource]
by
Jain, Puneet
Sharma, Suvasini
Kumar, Atin
Aneja, Satinder
Producer:
20151105
In:
Journal of child neurology
vol. 29
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40.
[Molecular basis of fucosidosis and mannosidosis].
[electronic resource]
by
Fukushima, H
Producer:
19900220
In:
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme
vol. 33
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