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PUBMED FOR HANDHELDS

Journal Abstract Search

300 related items for PubMed ID: 26960553

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  • 4. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
    Abdelfattah F, Kariminejad A, Kahlert AK, Morrison PJ, Gumus E, Mathews KD, Darbro BW, Amor DJ, Walsh M, Sznajer Y, Weiß L, Weidensee S, Chitayat D, Shannon P, Bermejo-Sánchez E, Riaño-Galán I, Hayes I, Poke G, Rooryck C, Pennamen P, Khung-Savatovsky S, Toutain A, Vuillaume ML, Ghaderi-Sohi S, Kariminejad MH, Weinert S, Sticht H, Zenker M, Schanze D.
    Hum Mutat; 2020 Sep; 41(9):1615-1628. PubMed ID: 32579715
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  • 11. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.
    Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS.
    Am J Hum Genet; 2014 Jun 05; 94(6):898-904. PubMed ID: 24836451
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  • 16. PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
    Cuinat S, Quélin C, Pasquier L, Loget P, Aussel D, Odent S, Laquerrière A, Proisy M, Mazoyer S, Delous M, Edery P, Chatron N, Lesca G, Putoux A.
    Eur J Med Genet; 2023 Nov 05; 66(11):104852. PubMed ID: 37758168
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  • 17. Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling.
    Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW.
    Mol Genet Metab; 2018 Mar 05; 123(3):309-316. PubMed ID: 29269105
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  • 18. Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.
    Bourgon N, Chen R, Grangé G, Grotto S, Molac C, Loeuillet L, Attié-Bitach T.
    Prenat Diagn; 2023 Dec 05; 43(13):1666-1670. PubMed ID: 37964427
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  • 20. Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review.
    Fu J, Chen L, Su T, Xu S, Liu Y.
    Int J Dev Neurosci; 2023 Feb 05; 83(1):44-52. PubMed ID: 36308023
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