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Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
Chapleau A, Mirchi A, Tran LT, Poulin C, Bernard G. Chapleau A, et al. Pediatr Neurol. 2023 Nov;148:133-137. doi: 10.1016/j.pediatrneurol.2023.08.013. Epub 2023 Aug 19. Pediatr Neurol. 2023. PMID: 37713976 Free article.
BACKGROUND: Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categorized based on severity from least to most severe: Salla disease, intermediate-severe Salla disease, and infantile free sialic acid storage …
BACKGROUND: Biallelic pathogenic variants in SLC17A5 cause three forms of free sialic acid storage disease categorized based on severity fro …
Neuropathology of Salla disease.
Autio-Harmainen H, Oldfors A, Sourander P, Renlund M, Dammert K, Similä S. Autio-Harmainen H, et al. Acta Neuropathol. 1988;75(5):481-90. doi: 10.1007/BF00687135. Acta Neuropathol. 1988. PMID: 3287834 Review.
A neuropathological study was performed on two patients with Salla disease, one male and one female, from different families. ...Cerebellum showed moderate loss of Purkinje cells. In the spinal cord axonal degeneration was observed in both ascending and desce …
A neuropathological study was performed on two patients with Salla disease, one male and one female, from different families. …
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. Coker M, et al. Turk J Pediatr. 2009 Nov-Dec;51(6):605-9. Turk J Pediatr. 2009. PMID: 20196397
We report two patients with Salla disease: a two-year-old girl, presented with hypotonia, inability to speak and walk, bilateral optic atrophies, defective myelination, cerebellar atrophy, and thinning of the corpus callosum on magnetic resonance imaging (MRI), who …
We report two patients with Salla disease: a two-year-old girl, presented with hypotonia, inability to speak and walk, bilater …
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease.
Wolburg-Buchholz K, Schlote W, Baumkötter J, Cantz M, Holder H, Harzer K. Wolburg-Buchholz K, et al. Neuropediatrics. 1985 May;16(2):67-75. doi: 10.1055/s-2008-1052546. Neuropediatrics. 1985. PMID: 4010893
The clinical picture and the ultrastructural and biochemical findings were compatible with Salla disease, a rare lysosomal storage disease originally observed in Finland....
The clinical picture and the ultrastructural and biochemical findings were compatible with Salla disease, a rare lysosomal sto …
Sialic acid storage disorders: observations on clinical and biochemical variation.
Mancini GM, Verheijen FW, Beerens CE, Renlund M, Aula P. Mancini GM, et al. Dev Neurosci. 1991;13(4-5):327-30. doi: 10.1159/000112181. Dev Neurosci. 1991. PMID: 1817039 Review.
Lysosomal accumulation of free sialic acid results in two phenotypically distinct inherited metabolic disorders, Salla disease and infantile sialic acid storage disease. Clinical and biochemical findings in both diseases are reviewed. ...
Lysosomal accumulation of free sialic acid results in two phenotypically distinct inherited metabolic disorders, Salla disease …
Free urinary sialic acid levels may be elevated in patients with pneumococcal sepsis.
Donoghue SE, Heath O, Pitt J, Hong KM, Fuller M, Smith J. Donoghue SE, et al. Clin Chem Lab Med. 2022 Aug 25;60(11):1855-1858. doi: 10.1515/cclm-2022-0473. Print 2022 Oct 26. Clin Chem Lab Med. 2022. PMID: 36000484
OBJECTIVES: Urine free sialic acid (UFSA) is an important diagnostic biomarker for sialuria (GNE variants) and infantile sialic acid storage disease/Salla disease (SLC17A5 variants). Traditionally, UFSA has been measured using specific single-plex methodology in rel …
OBJECTIVES: Urine free sialic acid (UFSA) is an important diagnostic biomarker for sialuria (GNE variants) and infantile sialic acid storage …
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.
Schleutker J, Leppänen P, Månsson JE, Erikson A, Weissenbach J, Peltonen L, Aula P. Schleutker J, et al. Am J Hum Genet. 1995 Oct;57(4):893-901. Am J Hum Genet. 1995. PMID: 7573051 Free PMC article.
Similarities in biochemical findings have suggested that Salla disease (SD) and the infantile form of sialic acid storage disease (ISSD) could represent allelic disorders, despite their drastically different clinical phenotypes. ...Haplotype analyses of Finnish SD c …
Similarities in biochemical findings have suggested that Salla disease (SD) and the infantile form of sialic acid storage dise …
Magnetic resonance imaging pattern recognition in hypomyelinating disorders.
Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS. Steenweg ME, et al. Brain. 2010 Oct;133(10):2971-82. doi: 10.1093/brain/awq257. Brain. 2010. PMID: 20881161 Free PMC article.
Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. ...Pelizaeus-Merzbacher-like disease was divided between two clusters and Salla disease did not cluster at all. This study shows that it i …
Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. ...Pelizaeus …
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM. Verheijen FW, et al. Nat Genet. 1999 Dec;23(4):462-5. doi: 10.1038/70585. Nat Genet. 1999. PMID: 10581036
Salla disease and ISSD were further shown to be allelic disorders. ...We found a homozygous SLC17A5 mutation (R39C) in five Finnish patients with Salla disease and six different SLC17A5 mutations in six ISSD patients of different ethnic origins. ...
Salla disease and ISSD were further shown to be allelic disorders. ...We found a homozygous SLC17A5 mutation (R39C) in five Fi …
Multiple neuroendocrine disorder in Salla disease.
Grosso S, Berardi R, Farnetani MA, Margollicci M, Mancini MG, Morgese G, Balestri P. Grosso S, et al. J Child Neurol. 2001 Oct;16(10):775-7. doi: 10.1177/088307380101601015. J Child Neurol. 2001. PMID: 11669356
Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, ataxia, axial hypotonia, and spasticity in the lower limbs occur. ...We repor …
Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive …
21 results