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Journal Abstract Search

314 related items for PubMed ID: 25913727

  • 1.
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  • 2. 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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  • 6. Prenatal genetic diagnosis of Neu-Laxova syndrome.
    Wood AM, Mottola AT, Rhee EH, Kuller JA.
    J Obstet Gynaecol; 2018 Apr 05; 38(3):413-414. PubMed ID: 28903583
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  • 7. Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.
    Bourque DK, Cloutier M, Kernohan KD, Bareke E, Grynspan D, Michaud J, Care4Rare Canada ConsortiumCHEO Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Boycott KM.
    Am J Med Genet A; 2019 May 05; 179(5):813-816. PubMed ID: 30838783
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  • 8. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
    Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M.
    Am J Hum Genet; 2014 Sep 04; 95(3):285-93. PubMed ID: 25152457
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  • 9. Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.
    Benke PJ, Hidalgo RJ, Braffman BH, Jans J, Gassen KLIV, Sunbul R, El-Hattab AW.
    J Child Neurol; 2017 May 04; 32(6):543-549. PubMed ID: 28135894
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  • 10. Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
    Han J, Yang YD, He Y, Liu WJ, Zhen L, Pan M, Yang X, Zhang VW, Liao C, Li DZ.
    Prenat Diagn; 2020 Apr 04; 40(5):577-584. PubMed ID: 31994750
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  • 11. On the phenotypic spectrum of serine biosynthesis defects.
    El-Hattab AW, Shaheen R, Hertecant J, Galadari HI, Albaqawi BS, Nabil A, Alkuraya FS.
    J Inherit Metab Dis; 2016 May 04; 39(3):373-381. PubMed ID: 26960553
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  • 12. 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 04; 41(9):1615-1628. PubMed ID: 32579715
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  • 13. A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
    Sirr A, Lo RS, Cromie GA, Scott AC, Ashmead J, Heyesus M, Dudley AM.
    J Inherit Metab Dis; 2020 Jul 04; 43(4):758-769. PubMed ID: 32077105
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  • 14. Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency.
    Takeichi T, Okuno Y, Kawamoto A, Inoue T, Nagamoto E, Murase C, Shimizu E, Tanaka K, Kageshita Y, Fukushima S, Kono M, Ishikawa J, Ihn H, Takahashi Y, Akiyama M.
    J Lipid Res; 2018 Dec 04; 59(12):2413-2420. PubMed ID: 30348640
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  • 15. Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
    Ali A, Dhahouri NA, Almesmari FSA, Fathalla WM, Jasmi FA.
    Genes (Basel); 2021 May 08; 12(5):. PubMed ID: 34066864
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  • 16. [Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency].
    Tao Z, Lu F.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb 10; 38(2):170-173. PubMed ID: 33565074
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  • 17. Neu Laxova syndrome.
    Dwivedi T, Gosavi M.
    Indian J Pathol Microbiol; 2019 Feb 10; 62(1):149-152. PubMed ID: 30706883
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  • 18. Neu-Laxova Syndrome: An Unusual Association with Kyphosis.
    Kaur A, Suranagi V, Patil K, Bannur H.
    Turk Patoloji Derg; 2018 Feb 10; 34(3):259-261. PubMed ID: 28272663
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  • 19. 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 10; 43(13):1666-1670. PubMed ID: 37964427
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  • 20. Neu-Laxova syndrome: a case report.
    Roy S, Begum J, Sharifunnaher B, Saha AK, Afroza S, Islam MZ.
    Mymensingh Med J; 2014 Jan 10; 23(1):167-9. PubMed ID: 24584393
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