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 *

191 related articles for article (PubMed ID: 27172925)

  • 1. Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
    Barba C; Darra F; Cusmai R; Procopio E; Dionisi Vici C; Keldermans L; Vuillaumier-Barrot S; Lefeber DJ; Guerrini R;
    Dev Med Child Neurol; 2016 Oct; 58(10):1085-91. PubMed ID: 27172925
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
    Rimella-Le-Huu A; Henry H; Kern I; Hanquinet S; Roulet-Perez E; Newman CJ; Superti-Furga A; Bonafé L; Ballhausen D
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S381-6. PubMed ID: 18679822
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.
    Paketci C; Edem P; Hiz S; Sonmezler E; Soydemir D; Sarikaya Uzan G; Oktay Y; O'Heir E; Beltran S; Laurie S; Töpf A; Lochmuller H; Horvath R; Yis U
    Brain Dev; 2020 Aug; 42(7):539-545. PubMed ID: 32389449
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
    Fiumara A; Barone R; Del Campo G; Striano P; Jaeken J
    JIMD Rep; 2016; 27():93-9. PubMed ID: 26453362
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.
    Arai Y; Okanishi T; Kanai S; Okazaki T; Koshimizu E; Miyatake S; Maeoka Y; Fujimoto A; Matsumoto N; Maegaki Y
    Brain Dev; 2022 Nov; 44(10):732-736. PubMed ID: 35907674
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
    Shah R; Eklund EA; Radenkovic S; Sadek M; Shammas I; Verberkmoes S; Ng BG; Freeze HH; Edmondson AC; He M; Kozicz T; Altassan R; Morava E
    Mol Genet Metab; 2024 Jun; 142(2):108472. PubMed ID: 38703411
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
    Teutonico F; Volpe C; Proto A; Costi I; Cavallari U; Doneda P; Iascone M; Sturiale L; Barone R; Martinelli S; Vignoli A
    Neurogenetics; 2024 Jul; 25(3):281-286. PubMed ID: 38498292
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
    Anzai R; Tsuji M; Yamashita S; Wada Y; Okamoto N; Saitsu H; Matsumoto N; Goto T
    Brain Dev; 2021 Mar; 43(3):402-410. PubMed ID: 33261925
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.
    Morava E; Wosik H; Kárteszi J; Guillard M; Adamowicz M; Sykut-Cegielska J; Hadzsiev K; Wevers RA; Lefeber DJ
    J Inherit Metab Dis; 2008 Jun; 31(3):450-6. PubMed ID: 18500572
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. Epileptic spasms in congenital disorders of glycosylation.
    Pereira AG; Bahi-Buisson N; Barnerias C; Boddaert N; Nabbout R; de Lonlay P; Kaminska A; Eisermann M
    Epileptic Disord; 2017 Mar; 19(1):15-23. PubMed ID: 28300031
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.
    İnci A; Cengiz B; Biberoğlu G; Okur İ; Arhan E; Öner AY; Kasapkara ÇS; Küçükçongar A; Tümer L; Ezgu F
    Am J Med Genet A; 2021 Sep; 185(9):2739-2747. PubMed ID: 33960646
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay.
    de Vries BB; van'tHoff WG; Surtees RA; Winter RM
    Clin Dysmorphol; 2001 Apr; 10(2):115-21. PubMed ID: 11310991
    [TBL] [Abstract][Full Text] [Related]  

  • 14. ALG11-CDG: novel variant and review of the literature.
    Erdal AE; Ceylan AC; Gücüyener K; Öktem RM; Kıreker Köylü O; Kasapkara ÇS
    J Pediatr Endocrinol Metab; 2023 Apr; 36(4):409-413. PubMed ID: 36843332
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
    Morava E; Vodopiutz J; Lefeber DJ; Janecke AR; Schmidt WM; Lechner S; Item CB; Sykut-Cegielska J; Adamowicz M; Wierzba J; Zhang ZH; Mihalek I; Stockler S; Bodamer OA; Lehle L; Wevers RA
    Pediatrics; 2012 Oct; 130(4):e1034-9. PubMed ID: 22966035
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.
    Riess S; Reddihough DS; Howell KB; Dagia C; Jaeken J; Matthijs G; Yaplito-Lee J
    Mol Genet Metab; 2013; 110(1-2):170-5. PubMed ID: 23791010
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
    Al Teneiji A; Bruun TU; Sidky S; Cordeiro D; Cohn RD; Mendoza-Londono R; Moharir M; Raiman J; Siriwardena K; Kyriakopoulou L; Mercimek-Mahmutoglu S
    Mol Genet Metab; 2017 Mar; 120(3):235-242. PubMed ID: 28122681
    [TBL] [Abstract][Full Text] [Related]  

  • 18. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
    Barone R; Aiello C; Race V; Morava E; Foulquier F; Riemersma M; Passarelli C; Concolino D; Carella M; Santorelli F; Vleugels W; Mercuri E; Garozzo D; Sturiale L; Messina S; Jaeken J; Fiumara A; Wevers RA; Bertini E; Matthijs G; Lefeber DJ
    Ann Neurol; 2012 Oct; 72(4):550-8. PubMed ID: 23109149
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SLC35A2-CDG: novel variants with two ends of the spectrum.
    Kasapkara ÇS; Ceylan AC; Özyürek H; Karakaya Molla G; Civelek Ürey B; Kıreker Köylü O; Küçükçongar Yavaş A; Sönmez FM
    J Pediatr Endocrinol Metab; 2021 Sep; 34(9):1185-1189. PubMed ID: 34161696
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.