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.
6. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Kahrizi K; Hu CH; Garshasbi M; Abedini SS; Ghadami S; Kariminejad R; Ullmann R; Chen W; Ropers HH; Kuss AW; Najmabadi H; Tzschach A Eur J Hum Genet; 2011 Jan; 19(1):115-7. PubMed ID: 20700148 [TBL] [Abstract][Full Text] [Related]
7. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. Thiel C; Schwarz M; Peng J; Grzmil M; Hasilik M; Braulke T; Kohlschütter A; von Figura K; Lehle L; Körner C J Biol Chem; 2003 Jun; 278(25):22498-505. PubMed ID: 12684507 [TBL] [Abstract][Full Text] [Related]
8. N-Linked Glycans Are Assembled on Highly Reduced Dolichol Phosphate Carriers in the Hyperthermophilic Archaea Pyrococcus furiosus. Chang MM; Imperiali B; Eichler J; Guan Z PLoS One; 2015; 10(6):e0130482. PubMed ID: 26098850 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
10. 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; JAMA Ophthalmol; 2017 Apr; 135(4):339-347. PubMed ID: 28253385 [TBL] [Abstract][Full Text] [Related]
11. 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; 185(4):1081-1090. PubMed ID: 33403770 [TBL] [Abstract][Full Text] [Related]
12. Perspectives on Retinal Dolichol Metabolism, and Visual Deficits in Dolichol Metabolism-Associated Inherited Disorders. Rao SR; Pittler SJ; Fliesler SJ Adv Exp Med Biol; 2023; 1415():449-456. PubMed ID: 37440071 [TBL] [Abstract][Full Text] [Related]
16. 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; 65(5):104492. PubMed ID: 35339718 [TBL] [Abstract][Full Text] [Related]
17. Lec9 CHO glycosylation mutants are defective in the synthesis of dolichol. Rosenwald AG; Krag SS J Lipid Res; 1990 Mar; 31(3):523-33. PubMed ID: 2111370 [TBL] [Abstract][Full Text] [Related]
18. Adult phenotype and further phenotypic variability in SRD5A3-CDG. Kara B; Ayhan Ö; Gökçay G; Başboğaoğlu N; Tolun A BMC Med Genet; 2014 Jan; 15():10. PubMed ID: 24433453 [TBL] [Abstract][Full Text] [Related]
19. 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; 65(3):134-141. PubMed ID: 31638560 [TBL] [Abstract][Full Text] [Related]