104 related articles for article (PubMed ID: 26171070)
1. A 13-year follow-up of Finnish patients with Salla disease.
Paavola LE; Remes AM; Harila MJ; Varho TT; Korhonen TT; Majamaa K
J Neurodev Disord; 2015; 7(1):20. PubMed ID: 26171070
[TBL] [Abstract][Full Text] [Related]
2. Neurocognitive profiles in Salla disease.
Alajoki L; Varho T; Posti K; Aula P; Korhonen T
Dev Med Child Neurol; 2004 Dec; 46(12):832-7. PubMed ID: 15581157
[TBL] [Abstract][Full Text] [Related]
3. Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.
Varho TT; Alajoki LE; Posti KM; Korhonen TT; Renlund MG; Nyman SR; Sillanpää ML; Aula PP
Pediatr Neurol; 2002 Apr; 26(4):267-73. PubMed ID: 11992753
[TBL] [Abstract][Full Text] [Related]
4. An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
Biancheri R; Verbeek E; Rossi A; Gaggero R; Roccatagliata L; Gatti R; van Diggelen O; Verheijen FW; Mancini GM
Clin Genet; 2002 Jun; 61(6):443-7. PubMed ID: 12121352
[TBL] [Abstract][Full Text] [Related]
5. 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
Nat Genet; 1999 Dec; 23(4):462-5. PubMed ID: 10581036
[TBL] [Abstract][Full Text] [Related]
6. An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation.
Paavola LE; Remes AM; Sonninen PH; Kiviniemi VV; Korhonen TT; Majamaa K
Case Rep Neurol Med; 2012; 2012():615721. PubMed ID: 23227378
[TBL] [Abstract][Full Text] [Related]
7. The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients.
Sewell AC; Poets CF; Degen I; Stöss H; Pontz BF
Am J Med Genet; 1996 May; 63(1):203-8. PubMed ID: 8723111
[TBL] [Abstract][Full Text] [Related]
8. Prenatal diagnosis of free sialic acid storage disorders (SASD).
Aula N; Aula P
Prenat Diagn; 2006 Aug; 26(8):655-8. PubMed ID: 16715535
[TBL] [Abstract][Full Text] [Related]
9. Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
Kleta R; Morse RP; Orvisky E; Krasnewich D; Alroy J; Ucci AA; Bernardini I; Wenger DA; Gahl WA
Mol Genet Metab; 2004 Jun; 82(2):137-43. PubMed ID: 15172001
[TBL] [Abstract][Full Text] [Related]
10. [Frontal dementia or dementia praecox? A case report of a psychotic disorder with a severe decline].
Vanderzeypen F; Bier JC; Genevrois C; Mendlewicz J; Lotstra F
Encephale; 2003; 29(2):172-80. PubMed ID: 14567169
[TBL] [Abstract][Full Text] [Related]
11. A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
Barmherzig R; Bullivant G; Cordeiro D; Sinasac DS; Blaser S; Mercimek-Mahmutoglu S
Pediatr Neurol; 2017 Sep; 74():87-91.e2. PubMed ID: 28662915
[TBL] [Abstract][Full Text] [Related]
12. Novel form of intermediate salla disease: clinical and neuroimaging features.
Morse RP; Kleta R; Alroy J; Gahl WA
J Child Neurol; 2005 Oct; 20(10):814-6. PubMed ID: 16417876
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder.
Haataja L; Parkkola R; Sonninen P; Vanhanen SL; Schleutker J; Aärimaa T; Turpeinen U; Renlund M; Aula P
Neuropediatrics; 1994 Oct; 25(5):238-44. PubMed ID: 7885532
[TBL] [Abstract][Full Text] [Related]
14. Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
Chapleau A; Mirchi A; Tran LT; Poulin C; Bernard G
Pediatr Neurol; 2023 Nov; 148():133-137. PubMed ID: 37713976
[TBL] [Abstract][Full Text] [Related]
15. International collaborative study of intracytoplasmic sperm injection-conceived, in vitro fertilization-conceived, and naturally conceived 5-year-old child outcomes: cognitive and motor assessments.
Ponjaert-Kristoffersen I; Bonduelle M; Barnes J; Nekkebroeck J; Loft A; Wennerholm UB; Tarlatzis BC; Peters C; Hagberg BS; Berner A; Sutcliffe AG
Pediatrics; 2005 Mar; 115(3):e283-9. PubMed ID: 15741353
[TBL] [Abstract][Full Text] [Related]
16. Increased brain glucose utilization in Salla disease (free sialic acid storage disorder).
Suhonen-Polvi H; Varho T; Metsähonkala L; Haataja L; Ruotsalainen U; Haaparanta M; Bergman J; Solin O; Aärimaa T; Holopainen I; Vainionpää L; Manner T; Jääskeläinen S; Renlund M; Sillanpää M; Aula P
J Nucl Med; 1999 Jan; 40(1):12-8. PubMed ID: 9935050
[TBL] [Abstract][Full Text] [Related]
17. [Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].
Yano T; Ohno K
Nihon Rinsho; 1995 Dec; 53(12):3068-71. PubMed ID: 8577060
[TBL] [Abstract][Full Text] [Related]
18. Salla disease in one non-Finnish patient.
Echenne B; Vidal M; Maire I; Michalski JC; Baldet P; Astruc J
Eur J Pediatr; 1986 Sep; 145(4):320-2. PubMed ID: 3770005
[TBL] [Abstract][Full Text] [Related]
19. Opsoclonus-ataxia caused by childhood neuroblastoma: developmental and neurologic sequelae.
Mitchell WG; Davalos-Gonzalez Y; Brumm VL; Aller SK; Burger E; Turkel SB; Borchert MS; Hollar S; Padilla S
Pediatrics; 2002 Jan; 109(1):86-98. PubMed ID: 11773546
[TBL] [Abstract][Full Text] [Related]
20. Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.
Salomäki P; Aula N; Juvonen V; Renlund M; Aula P
Prenat Diagn; 2001 May; 21(5):354-8. PubMed ID: 11360275
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]