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 *

148 related articles for article (PubMed ID: 8216537)

  • 1. Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.
    Hagberg BA; Blennow G; Kristiansson B; Stibler H
    Pediatr Neurol; 1993; 9(4):255-62. PubMed ID: 8216537
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Early manifestations of the carbohydrate-deficient glycoprotein syndrome.
    Petersen MB; Brostrøm K; Stibler H; Skovby F
    J Pediatr; 1993 Jan; 122(1):66-70. PubMed ID: 8419616
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.
    Jaeken J; Stibler H; Hagberg B
    Acta Paediatr Scand Suppl; 1991; 375():1-71. PubMed ID: 1720595
    [No Abstract]   [Full Text] [Related]  

  • 4. Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
    Carchon H; Van Schaftingen E; Matthijs G; Jaeken J
    Biochim Biophys Acta; 1999 Oct; 1455(2-3):155-65. PubMed ID: 10571009
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical, cytogenetic and immunological aspects in 4 cases resembling ataxia telangiectasia.
    Lanzi G; Balottin U; Franciotta D; Maserati E; Ottolini A; Pasquali F; Veggiotti P
    Eur Neurol; 1992; 32(3):121-5. PubMed ID: 1375558
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease.
    Stibler H; Blennow G; Kristiansson B; Lindehammer H; Hagberg B
    J Neurol Neurosurg Psychiatry; 1994 May; 57(5):552-6. PubMed ID: 8201322
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.
    Pérez-Cerdá C; Quelhas D; Vega AI; Ecay J; Vilarinho L; Ugarte M
    Clin Chem; 2008 Jan; 54(1):93-100. PubMed ID: 18024528
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Diagnosis of the carbohydrate-deficient glycoprotein syndrome by analysis of transferrin in filter paper blood spots.
    Stibler H; Cederberg B
    Acta Paediatr; 1993 Jan; 82(1):55-9. PubMed ID: 8453223
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome.
    Kristiansson B; Stibler H; Wide L
    Acta Paediatr; 1995 Jun; 84(6):655-9. PubMed ID: 7670249
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Disialotransferrin developmental deficiency syndrome.
    Kristiansson B; Andersson M; Tonnby B; Hagberg B
    Arch Dis Child; 1989 Jan; 64(1):71-6. PubMed ID: 2466439
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Renal cysts in the carbohydrate-deficient glycoprotein syndrome.
    Strøm EH; Strømme P; Westvik J; Pedersen SJ
    Pediatr Nephrol; 1993 Jun; 7(3):253-5. PubMed ID: 8518092
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.
    Stibler H; Jaeken J
    Arch Dis Child; 1990 Jan; 65(1):107-11. PubMed ID: 2301971
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.
    Stibler H; Holzbach U; Kristiansson B
    Scand J Clin Lab Invest; 1998 Feb; 58(1):55-61. PubMed ID: 9516657
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs).
    Biffi S; Tamaro G; Bortot B; Zamberlan S; Severini GM; Carrozzi M
    Clin Biochem; 2007 Dec; 40(18):1431-4. PubMed ID: 17920054
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Pathogenesis, diagnosis, clinical and therapeutic aspects of ataxia telangiectasia].
    Güngör T; Bühring I; Cremer R; Gartenschläger M; Zielen S
    Klin Padiatr; 1997; 209(5):328-35. PubMed ID: 9411043
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia.
    Miossec-Chauvet E; Mikaeloff Y; Heron D; Merzoug V; Cormier-Daire V; de Lonlay P; Matthijs G; Van Hulle C; Ponsot G; Seta N
    Neuropediatrics; 2003 Feb; 34(1):1-6. PubMed ID: 12690561
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature.
    Pascual-Castroviejo I; Gutierrez M; Morales C; Gonzalez-Mediero I; Martínez-Bermejo A; Pascual-Pascual SI
    Neuropediatrics; 1994 Aug; 25(4):183-90. PubMed ID: 7824090
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
    Pérez-Dueñas B; García-Cazorla A; Pineda M; Poo P; Campistol J; Cusí V; Schollen E; Matthijs G; Grunewald S; Briones P; Pérez-Cerdá C; Artuch R; Vilaseca MA
    Eur J Paediatr Neurol; 2009 Sep; 13(5):444-51. PubMed ID: 18948042
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation.
    Colomé C; Ferrer I; Artuch R; Vilaseca MA; Pineda M; Briones P
    Clin Chem Lab Med; 2000 Oct; 38(10):965-9. PubMed ID: 11140630
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hereditary cerebellar affections.
    Skre H
    Acta Neurol Scand Suppl; 1972; 51():265-8. PubMed ID: 4514349
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.