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Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. ( 30243016
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?igman T...Bari? I
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2018 |
| 2 |
A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder. ( 29875421
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Zielonka M...Ries M
|
2018 |
| 3 |
Prenatal hydrops foetalis associated with infantile free sialic acid storage disease. ( 26076308
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Chock V.Y....Hintz S.R.
|
2015 |
| 4 |
Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination. ( 20728092
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2011 |
| 5 |
Free sialic acid storage disease without sialuria. ( 19557856
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Mochel F....Schiffmann R.
|
2009 |
| 6 |
Prenatal diagnosis of free sialic acid storage disorders (SASD). ( 16715535
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Aula N....Aula P.
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2006 |
| 7 |
Varied mechanisms underlie the free sialic acid storage disorders. ( 15516337
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Wreden C.C....Reimer R.J.
|
2005 |
| 8 |
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. ( 15172001
)
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Kleta R....Gahl W.A.
|
2004 |
| 9 |
A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. ( 15172005
)
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Landau D....Birk O.S.
|
2004 |
| 10 |
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. ( 12794688
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2003 |
| 11 |
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. ( 12359136
)
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Aula N....Peltonen L.
|
2002 |
| 12 |
Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families. ( 11360275
)
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SalomAoki P....Aula P.
|
2001 |
| 13 |
Clinical spectrum of infantile free sialic acid storage disease. ( 10069709
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Lemyre E...Lambert M
|
1999 |
| 14 |
Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. ( 7573051
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Schleutker J....Aula P.
|
1995 |
| 15 |
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. ( 8198127
)
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Haataja L....Aula P.
|
1994 |
| 16 |
Free Sialic Acid Storage Disorders ( 20301643
)
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1993 |
| 17 |
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. ( 2363700
)
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Blom H.J....Gahl W.A.
|
1990 |
| 18 |
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. ( 2768266
)
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1989 |
| 19 |
Free sialic acid storage disease. A new Italian case. ( 3569361
)
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Fois A...Gerli R
|
1987 |
