These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 4043964)

  • 1. N-Acetylneuraminic acid storage disease.
    Baumkötter J; Cantz M; Mendla K; Baumann W; Friebolin H; Gehler J; Spranger J
    Hum Genet; 1985; 71(2):155-9. PubMed ID: 4043964
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism.
    Renlund M; Chester MA; Lundblad A; Parkkinen J; Krusius T
    Eur J Biochem; 1983 Jan; 130(1):39-45. PubMed ID: 6297896
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and laboratory diagnosis of Salla disease in infancy and childhood.
    Renlund M
    J Pediatr; 1984 Feb; 104(2):232-6. PubMed ID: 6694015
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.
    Renlund M; Kovanen PT; Raivio KO; Aula P; Gahmberg CG; Ehnholm C
    J Clin Invest; 1986 Feb; 77(2):568-74. PubMed ID: 3944269
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease.
    Kelly TE; Graetz G
    Am J Med Genet; 1977; 1(1):31-46. PubMed ID: 610425
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Free sialic acid storage disease. A new Italian case.
    Fois A; Balestri P; Farnetani MA; Mancini GM; Borgogni P; Margollicci MA; Molinelli M; Alessandrini C; Gerli R
    Eur J Pediatr; 1987 Mar; 146(2):195-8. PubMed ID: 3569361
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sialuria: a second case.
    Wilcken B; Don N; Greenaway R; Hammond J; Sosula L
    J Inherit Metab Dis; 1987; 10(2):97-102. PubMed ID: 2443758
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.
    Renlund M; Aula P; Raivio KO; Autio S; Sainio K; Rapola J; Koskela SL
    Neurology; 1983 Jan; 33(1):57-66. PubMed ID: 6681560
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes.
    Renlund M; Aula P
    Am J Med Genet; 1987 Oct; 28(2):377-84. PubMed ID: 3425617
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.
    Blom HJ; Andersson HC; Seppala R; Tietze F; Gahl WA
    Biochem J; 1990 Jun; 268(3):621-5. PubMed ID: 2363700
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Japanese case of infantile sialic acid storage disease.
    Nakano C; Hirabayashi Y; Ohno K; Yano T; Mito T; Sakurai M
    Brain Dev; 1996; 18(2):153-6. PubMed ID: 8733911
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease.
    Renlund M; Chester MA; Lundblad A; Aula P; Raivio KO; Autio S; Koskela SL
    Eur J Biochem; 1979 Nov; 101(1):245-50. PubMed ID: 510308
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.
    Renlund M; Tietze F; Gahl WA
    Science; 1986 May; 232(4751):759-62. PubMed ID: 3961501
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Infantile type of sialic acid storage disease with sialuria.
    Paschke E; Trinkl G; Erwa W; Pavelka M; Mutz I; Roscher A
    Clin Genet; 1986 May; 29(5):417-24. PubMed ID: 3742847
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type.
    Stevenson RE; Lubinsky M; Taylor HA; Wenger DA; Schroer RJ; Olmstead PM
    Pediatrics; 1983 Oct; 72(4):441-9. PubMed ID: 6889058
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease.
    Tietze F; Seppala R; Renlund M; Hopwood JJ; Harper GS; Thomas GH; Gahl WA
    J Biol Chem; 1989 Sep; 264(26):15316-22. PubMed ID: 2768266
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Genetic disorders of N-acetylneuraminic acid metabolism: sialurias and sialidoses].
    Strecker G
    C R Seances Soc Biol Fil; 1985; 179(5):567-76. PubMed ID: 2938684
    [TBL] [Abstract][Full Text] [Related]  

  • 19. N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease.
    Hancock LW; Horwitz AL; Dawson G
    Biochim Biophys Acta; 1983 Oct; 760(1):42-52. PubMed ID: 6615884
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A simple enzymatic determination of urinary sialic acid--its significance in the diagnosis of disorders of sialic acid metabolism.
    Okamura-Oho Y; Yamanaka T; Suzuki Y; Akagi M; Kobayashi T
    Clin Chim Acta; 1984 Dec; 144(2-3):263-7. PubMed ID: 6529860
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.