| 1 |
Prenatal hydrops foetalis associated with infantile free sialic acid storage disease. ( 26076308
)
|
Chock V.Y....Hintz S.R.
|
2015 |
| 2 |
Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination. ( 20728092
)
|
Debray F.G....Stevens R.
|
2011 |
| 3 |
Free sialic acid storage disease without sialuria. ( 19557856
)
|
Mochel F....Schiffmann R.
|
2009 |
| 4 |
Prenatal diagnosis of free sialic acid storage disorders (SASD). ( 16715535
)
|
Aula N....Aula P.
|
2006 |
| 5 |
Varied mechanisms underlie the free sialic acid storage disorders. ( 15516337
)
|
Wreden C.C....Reimer R.J.
|
2005 |
| 6 |
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. ( 15172001
)
|
Kleta R....Gahl W.A.
|
2004 |
| 7 |
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
)
|
Landau D....Birk O.S.
|
2004 |
| 8 |
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. ( 12794688
)
|
Kleta R....Gahl W.A.
|
2003 |
| 9 |
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. ( 12359136
)
|
Aula N....Peltonen L.
|
2002 |
| 10 |
Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. ( 11992753
)
|
Varho T.T....Aula P.P.
|
2002 |
| 11 |
Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families. ( 11360275
)
|
SalomAoki P....Aula P.
|
2001 |
| 12 |
The spectrum of SLC17A5-gene mutations resulting in free sialic acid- storage diseases indicates some genotype-phenotype correlation. ( 10947946
)
|
Aula N....Peltonen L.
|
2000 |
| 13 |
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder). ( 9935050
)
|
Suhonen-Polvi H....Aula P.
|
1999 |
| 14 |
Clinical spectrum of infantile free sialic acid storage disease. ( 10069709
)
|
Lemyre E....Lambert M.
|
1999 |
| 15 |
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
)
|
Schleutker J....Aula P.
|
1995 |
| 16 |
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. ( 8198127
)
|
Haataja L....Aula P.
|
1994 |
| 17 |
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. ( 7885532
)
|
Haataja L....Aula P.
|
1994 |
| 18 |
Free Sialic Acid Storage Disorders ( 20301643
)
|
Pagon R.A....Stephens K.
|
1993 |
| 19 |
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. ( 2363700
)
|
Blom H.J....Gahl W.A.
|
1990 |
| 20 |
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. ( 2768266
)
|
Tietze F....Gahl W.A.
|
1989 |
