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Journal Abstract Search

181 related items for PubMed ID: 36597345

  • 1. SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.
    Kasapkara CS, Olgac A, Derinkuyu BE, Oztoprak U, Jaeken J.
    J Coll Physicians Surg Pak; 2022 Dec; 32(12):SS221-SS226. PubMed ID: 36597345
    [Abstract] [Full Text] [Related]

  • 2. SRD5A3-CDG: a patient with a novel mutation.
    Kasapkara CS, Tümer L, Ezgü FS, Hasanoğlu A, Race V, Matthijs G, Jaeken J.
    Eur J Paediatr Neurol; 2012 Sep; 16(5):554-6. PubMed ID: 22240719
    [Abstract] [Full Text] [Related]

  • 3. Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
    Taylor RL, Arno G, Poulter JA, Khan KN, Morarji J, Hull S, Pontikos N, Rueda Martin A, Smith KR, Ali M, Toomes C, McKibbin M, Clayton-Smith J, Grunewald S, Michaelides M, Moore AT, Hardcastle AJ, Inglehearn CF, Webster AR, Black GC, UK Inherited Retinal Disease Consortium and the 100,000 Genomes Project.
    JAMA Ophthalmol; 2017 Apr 01; 135(4):339-347. PubMed ID: 28253385
    [Abstract] [Full Text] [Related]

  • 4. N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts.
    Garapati K, Ranatunga W, Joshi N, Budhraja R, Sabu S, Kantautas KA, Preston G, Perlstein EO, Kozicz T, Morava E, Pandey A.
    Glycobiology; 2024 Sep 30; 34(11):. PubMed ID: 39360848
    [Abstract] [Full Text] [Related]

  • 5. Adult phenotype and further phenotypic variability in SRD5A3-CDG.
    Kara B, Ayhan Ö, Gökçay G, Başboğaoğlu N, Tolun A.
    BMC Med Genet; 2014 Jan 16; 15():10. PubMed ID: 24433453
    [Abstract] [Full Text] [Related]

  • 6. SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
    Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S.
    Am J Med Genet A; 2021 Apr 16; 185(4):1081-1090. PubMed ID: 33403770
    [Abstract] [Full Text] [Related]

  • 7. SRD5A3-CDG: Twins with an intragenic tandem duplication.
    Rieger M, Türk M, Kraus C, Uebe S, Ekici AB, Krumbiegel M, Huchzermeyer C, Reis A, Thiel C.
    Eur J Med Genet; 2022 May 16; 65(5):104492. PubMed ID: 35339718
    [Abstract] [Full Text] [Related]

  • 8. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
    Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH.
    Am J Med Genet A; 2016 Dec 16; 170(12):3165-3171. PubMed ID: 27480077
    [Abstract] [Full Text] [Related]

  • 9. Life with too much polyprenol: polyprenol reductase deficiency.
    Gründahl JE, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler MG, Siedlecka J, Swiezewska E, Raetz CR, Marquardt T.
    Mol Genet Metab; 2012 Apr 16; 105(4):642-51. PubMed ID: 22304929
    [Abstract] [Full Text] [Related]

  • 10. Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case.
    Kousal B, Honzík T, Hansíková H, Ondrušková N, Čechová A, Tesařová M, Stránecký V, Meliška M, Michaelides M, Lišková P.
    Folia Biol (Praha); 2019 Apr 16; 65(3):134-141. PubMed ID: 31638560
    [Abstract] [Full Text] [Related]

  • 11. Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.
    Sabry S, Eissa NR, Zaki MS.
    BMC Res Notes; 2023 Apr 17; 16(1):53. PubMed ID: 37069668
    [Abstract] [Full Text] [Related]

  • 12. Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
    Yoldas Celik M, Yazici H, Erdem F, Yuksel Yanbolu A, Aykut A, Durmaz A, Zeybek S, Canda E, Kalkan Ucar S, Coker M.
    J Pediatr Endocrinol Metab; 2023 Jun 27; 36(6):530-538. PubMed ID: 37042760
    [Abstract] [Full Text] [Related]

  • 13. Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!
    Jaeken J.
    J Inherit Metab Dis; 2003 Jun 27; 26(2-3):99-118. PubMed ID: 12889654
    [Abstract] [Full Text] [Related]

  • 14. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
    Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blümel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG.
    Cell; 2010 Jul 23; 142(2):203-17. PubMed ID: 20637498
    [Abstract] [Full Text] [Related]

  • 15. Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).
    Khan AO.
    Ophthalmic Genet; 2018 Oct 23; 39(5):628-630. PubMed ID: 30019980
    [Abstract] [Full Text] [Related]

  • 16. A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
    Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT.
    Cell; 2024 Jul 11; 187(14):3585-3601.e22. PubMed ID: 38821050
    [Abstract] [Full Text] [Related]

  • 17. Congenital disorders of glycosylation.
    Jaeken J.
    Handb Clin Neurol; 2013 Jul 11; 113():1737-43. PubMed ID: 23622397
    [Abstract] [Full Text] [Related]

  • 18. Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
    Asteggiano CG, Papazoglu M, Bistué Millón MB, Peralta MF, Azar NB, Spécola NS, Guelbert N, Suldrup NS, Pereyra M, Dodelson de Kremer R.
    Pediatr Res; 2018 Dec 11; 84(6):837-841. PubMed ID: 30397276
    [Abstract] [Full Text] [Related]

  • 19. Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.
    Ng BG, Freeze HH, Himmelreich N, Blau N, Ferreira CR.
    Mol Genet Metab; 2024 May 11; 142(1):108476. PubMed ID: 38653092
    [Abstract] [Full Text] [Related]

  • 20. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
    Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, Ng BG, Bergman JE, van Bokhoven H, Körner C, Babovic-Vuksanovic D, Willemsen MA, Gleeson JG, Lehle L, de Brouwer AP, Lefeber DJ.
    Brain; 2010 Nov 11; 133(11):3210-20. PubMed ID: 20852264
    [Abstract] [Full Text] [Related]

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