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 *

183 related articles for article (PubMed ID: 36831116)

  • 1.
    Kodríková R; Pakanová Z; Krchňák M; Šedivá M; Šesták S; Květoň F; Beke G; Šalingová A; Skalická K; Brennerová K; Jančová E; Baráth P; Mucha J; Nemčovič M
    Biomedicines; 2023 Feb; 11(2):. PubMed ID: 36831116
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
    Westenfield K; Sarafoglou K; Speltz LC; Pierpont EI; Steyermark J; Nascene D; Bower M; Pierpont ME
    BMC Med Genet; 2018 Jun; 19(1):100. PubMed ID: 29907092
    [TBL] [Abstract][Full Text] [Related]  

  • 3. High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.
    van Scherpenzeel M; Steenbergen G; Morava E; Wevers RA; Lefeber DJ
    Transl Res; 2015 Dec; 166(6):639-649.e1. PubMed ID: 26307094
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
    Witters P; Tahata S; Barone R; Õunap K; Salvarinova R; Grønborg S; Hoganson G; Scaglia F; Lewis AM; Mori M; Sykut-Cegielska J; Edmondson A; He M; Morava E
    Genet Med; 2020 Jun; 22(6):1102-1107. PubMed ID: 32103184
    [TBL] [Abstract][Full Text] [Related]  

  • 5. SLC35A2-CDG: Novel variant and review.
    Quelhas D; Correia J; Jaeken J; Azevedo L; Lopes-Marques M; Bandeira A; Keldermans L; Matthijs G; Sturiale L; Martins E
    Mol Genet Metab Rep; 2021 Mar; 26():100717. PubMed ID: 33552911
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
    Vals MA; Ashikov A; Ilves P; Loorits D; Zeng Q; Barone R; Huijben K; Sykut-Cegielska J; Diogo L; Elias AF; Greenwood RS; Grunewald S; van Hasselt PM; van de Kamp JM; Mancini G; Okninska A; Pajusalu S; Rudd PM; Rustad CF; Salvarinova R; de Vries BBA; Wolf NI; ; Ng BG; Freeze HH; Lefeber DJ; Õunap K
    J Inherit Metab Dis; 2019 May; 42(3):553-564. PubMed ID: 30746764
    [TBL] [Abstract][Full Text] [Related]  

  • 8. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
    Ng BG; Sosicka P; Agadi S; Almannai M; Bacino CA; Barone R; Botto LD; Burton JE; Carlston C; Chung BH; Cohen JS; Coman D; Dipple KM; Dorrani N; Dobyns WB; Elias AF; Epstein L; Gahl WA; Garozzo D; Hammer TB; Haven J; Héron D; Herzog M; Hoganson GE; Hunter JM; Jain M; Juusola J; Lakhani S; Lee H; Lee J; Lewis K; Longo N; Lourenço CM; Mak CCY; McKnight D; Mendelsohn BA; Mignot C; Mirzaa G; Mitchell W; Muhle H; Nelson SF; Olczak M; Palmer CGS; Partikian A; Patterson MC; Pierson TM; Quinonez SC; Regan BM; Ross ME; Guillen Sacoto MJ; Scaglia F; Scheffer IE; Segal D; Singhal NS; Striano P; Sturiale L; Symonds JD; Tang S; Vilain E; Willis M; Wolfe LA; Yang H; Yano S; Powis Z; Suchy SF; Rosenfeld JA; Edmondson AC; Grunewald S; Freeze HH
    Hum Mutat; 2019 Jul; 40(7):908-925. PubMed ID: 30817854
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
    Papazoglu GM; Cubilla M; Pereyra M; de Kremer RD; Pérez B; Sturiale L; Asteggiano CG
    Glycoconj J; 2021 Apr; 38(2):191-200. PubMed ID: 33644825
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.
    Miyamoto S; Nakashima M; Ohashi T; Hiraide T; Kurosawa K; Yamamoto T; Takanashi J; Osaka H; Inoue K; Miyazaki T; Wada Y; Okamoto N; Saitsu H
    Mol Genet Genomic Med; 2019 Aug; 7(8):e814. PubMed ID: 31231989
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
    Ng BG; Buckingham KJ; Raymond K; Kircher M; Turner EH; He M; Smith JD; Eroshkin A; Szybowska M; Losfeld ME; Chong JX; Kozenko M; Li C; Patterson MC; Gilbert RD; Nickerson DA; Shendure J; Bamshad MJ; ; Freeze HH
    Am J Hum Genet; 2013 Apr; 92(4):632-6. PubMed ID: 23561849
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
    Sturiale L; Bianca S; Garozzo D; Terracciano A; Agolini E; Messina A; Palmigiano A; Esposito F; Barone C; Novelli A; Fiumara A; Jaeken J; Barone R
    Glycoconj J; 2019 Dec; 36(6):461-472. PubMed ID: 31529350
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of novel potential interaction partners of UDP-galactose (SLC35A2), UDP-N-acetylglucosamine (SLC35A3) and an orphan (SLC35A4) nucleotide sugar transporters.
    Wiktor M; Wiertelak W; Maszczak-Seneczko D; Balwierz PJ; Szulc B; Olczak M
    J Proteomics; 2021 Oct; 249():104321. PubMed ID: 34242836
    [TBL] [Abstract][Full Text] [Related]  

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

  • 15. De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
    Kodera H; Nakamura K; Osaka H; Maegaki Y; Haginoya K; Mizumoto S; Kato M; Okamoto N; Iai M; Kondo Y; Nishiyama K; Tsurusaki Y; Nakashima M; Miyake N; Hayasaka K; Sugahara K; Yuasa I; Wada Y; Matsumoto N; Saitsu H
    Hum Mutat; 2013 Dec; 34(12):1708-14. PubMed ID: 24115232
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects.
    Morelle W; Potelle S; Witters P; Wong S; Climer L; Lupashin V; Matthijs G; Gadomski T; Jaeken J; Cassiman D; Morava E; Foulquier F
    J Clin Endocrinol Metab; 2017 Apr; 102(4):1375-1386. PubMed ID: 28323990
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
    Bonaventura E; Barone R; Sturiale L; Pasquariello R; Alessandrì MG; Pinto AM; Renieri A; Panteghini C; Garavaglia B; Cioni G; Battini R
    Orphanet J Rare Dis; 2021 Jul; 16(1):307. PubMed ID: 34246313
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.
    Abuduxikuer K; Wang JS
    Front Genet; 2021; 12():658786. PubMed ID: 34122512
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
    Quelhas D; Martins E; Azevedo L; Bandeira A; Diogo L; Garcia P; Sequeira S; Ferreira AC; Teles EL; Rodrigues E; Fortuna AM; Mendonça C; Fernandes HC; Medeira A; Gaspar A; Janeiro P; Oliveira A; Laranjeira F; Ribeiro I; Souche E; Race V; Keldermans L; Matthijs G; Jaeken J
    J Pediatr; 2021 Apr; 231():148-156. PubMed ID: 33340551
    [TBL] [Abstract][Full Text] [Related]  

  • 20. N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
    Park JH; Mealer RG; Elias AF; Hoffmann S; Grüneberg M; Biskup S; Fobker M; Haven J; Mangels U; Reunert J; Rust S; Schoof J; Schwanke C; Smoller JW; Cummings RD; Marquardt T
    J Inherit Metab Dis; 2020 Nov; 43(6):1370-1381. PubMed ID: 32852845
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.