BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

331 related articles for article (PubMed ID: 11517108)

  • 1. Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.
    Kjaergaard S; Schwartz M; Skovby F
    Arch Dis Child; 2001 Sep; 85(3):236-9. PubMed ID: 11517108
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia).
    Kjaergaard S; Müller J; Skovby F
    Arch Dis Child; 2002 Oct; 87(4):324-7. PubMed ID: 12244009
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ophthalmic manifestations of congenital disorder of glycosylation type 1a.
    Jensen H; Kjaergaard S; Klie F; Moller HU
    Ophthalmic Genet; 2003 Jun; 24(2):81-8. PubMed ID: 12789572
    [TBL] [Abstract][Full Text] [Related]  

  • 4. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
    Morava E; Tiemes V; Thiel C; Seta N; de Lonlay P; de Klerk H; Mulder M; Rubio-Gozalbo E; Visser G; van Hasselt P; Horovitz DDG; de Souza CFM; Schwartz IVD; Green A; Al-Owain M; Uziel G; Sigaudy S; Chabrol B; van Spronsen FJ; Steinert M; Komini E; Wurm D; Bevot A; Ayadi A; Huijben K; Dercksen M; Witters P; Jaeken J; Matthijs G; Lefeber DJ; Wevers RA
    J Inherit Metab Dis; 2016 Sep; 39(5):713-723. PubMed ID: 27287710
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic.
    Damen G; de Klerk H; Huijmans J; den Hollander J; Sinaasappel M
    J Pediatr Gastroenterol Nutr; 2004 Mar; 38(3):282-7. PubMed ID: 15076627
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
    Westphal V; Kjaergaard S; Schollen E; Martens K; Grunewald S; Schwartz M; Matthijs G; Freeze HH
    Hum Mol Genet; 2002 Mar; 11(5):599-604. PubMed ID: 11875054
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).
    Casado M; O'Callaghan MM; Montero R; Pérez-Cerda C; Pérez B; Briones P; Quintana E; Muchart J; Aracil A; Pineda M; Artuch R
    Cerebellum; 2012 Jun; 11(2):557-63. PubMed ID: 22012410
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Carbohydrate deficient glycoprotein syndrome type Ia.
    Chu KL; Chien YH; Tsai CE; Freeze HH; Eklund E; Hwu WL
    J Formos Med Assoc; 2004 Sep; 103(9):721-3. PubMed ID: 15361947
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl.
    Farmania R; Jain P; Sharma S; Aneja S
    J Child Neurol; 2019 Jun; 34(7):410-414. PubMed ID: 30857461
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Failure to thrive and intestinal diseases in congenital disorders of glycosylation].
    Zentilin Boyer M; de Lonlay P; Seta N; Besnard M; Pélatan C; Ogier H; Hugot JP; Faure C; Saudubray JM; Navarro J; Cézard JP
    Arch Pediatr; 2003 Jul; 10(7):590-5. PubMed ID: 12907065
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
    Monin ML; Mignot C; De Lonlay P; Héron B; Masurel A; Mathieu-Dramard M; Lenaerts C; Thauvin C; Gérard M; Roze E; Jacquette A; Charles P; de Baracé C; Drouin-Garraud V; Khau Van Kien P; Cormier-Daire V; Mayer M; Ogier H; Brice A; Seta N; Héron D
    Orphanet J Rare Dis; 2014 Dec; 9():207. PubMed ID: 25497157
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Three families with mild PMM2-CDG and normal cognitive development.
    Vals MA; Morava E; Teeäär K; Zordania R; Pajusalu S; Lefeber DJ; Õunap K
    Am J Med Genet A; 2017 Jun; 173(6):1620-1624. PubMed ID: 28425223
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
    de Lonlay P; Seta N; Barrot S; Chabrol B; Drouin V; Gabriel BM; Journel H; Kretz M; Laurent J; Le Merrer M; Leroy A; Pedespan D; Sarda P; Villeneuve N; Schmitz J; van Schaftingen E; Matthijs G; Jaeken J; Korner C; Munnich A; Saudubray JM; Cormier-Daire V
    J Med Genet; 2001 Jan; 38(1):14-9. PubMed ID: 11134235
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
    Muthusamy K; Perez-Ortiz JM; Ligezka AN; Altassan R; Johnsen C; Schultz MJ; Patterson MC; Morava E
    Genet Med; 2024 Feb; 26(2):101027. PubMed ID: 37955240
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
    Schiff M; Roda C; Monin ML; Arion A; Barth M; Bednarek N; Bidet M; Bloch C; Boddaert N; Borgel D; Brassier A; Brice A; Bruneel A; Buissonnière R; Chabrol B; Chevalier MC; Cormier-Daire V; De Barace C; De Maistre E; De Saint-Martin A; Dorison N; Drouin-Garraud V; Dupré T; Echenne B; Edery P; Feillet F; Fontan I; Francannet C; Labarthe F; Gitiaux C; Héron D; Hully M; Lamoureux S; Martin-Coignard D; Mignot C; Morin G; Pascreau T; Pincemaille O; Polak M; Roubertie A; Thauvin-Robinet C; Toutain A; Viot G; Vuillaumier-Barrot S; Seta N; De Lonlay P
    J Med Genet; 2017 Dec; 54(12):843-851. PubMed ID: 28954837
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].
    Ren C; Fang F; Huang Y; Cheng H; Dai L
    Zhonghua Er Ke Za Zhi; 2015 Dec; 53(12):938-42. PubMed ID: 26887550
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.
    Ono H; Sakura N; Yamashita K; Yuasa I; Ohno K
    Brain Dev; 2003 Oct; 25(7):525-8. PubMed ID: 13129599
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
    Serrano M; de Diego V; Muchart J; Cuadras D; Felipe A; Macaya A; Velázquez R; Poo MP; Fons C; O'Callaghan MM; García-Cazorla A; Boix C; Robles B; Carratalá F; Girós M; Briones P; Gort L; Artuch R; Pérez-Cerdá C; Jaeken J; Pérez B; Pérez-Dueñas B
    Orphanet J Rare Dis; 2015 Oct; 10():138. PubMed ID: 26502900
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.
    Tayebi N; Andrews DQ; Park JK; Orvisky E; McReynolds J; Sidransky E; Krasnewich DM
    Am J Med Genet; 2002 Mar; 108(3):241-6. PubMed ID: 11891694
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.