BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 28135894)

  • 1. 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; 32(6):543-549. PubMed ID: 28135894
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
    Mattos EP; Silva AA; Magalhães JA; Leite JC; Leistner-Segal S; Gus-Kessler R; Perez JA; Vedolin LM; Torreblanca-Zanca A; Lapunzina P; Ruiz-Perez VL; Sanseverino MT
    Am J Med Genet A; 2015 Jun; 167(6):1323-9. PubMed ID: 25913727
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 39(3):373-381. PubMed ID: 26960553
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 94(6):898-904. PubMed ID: 24836451
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 95(3):285-93. PubMed ID: 25152457
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Neu-Laxova syndrome: Three case reports and a review of the literature].
    Darouich S; Boujelbene N; Kehila M; Chanoufi MB; Reziga H; Gaigi S; Masmoudi A
    Ann Pathol; 2016 Aug; 36(4):235-44. PubMed ID: 27475004
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 43(4):758-769. PubMed ID: 32077105
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two new cases of serine deficiency disorders treated with l-serine.
    Brassier A; Valayannopoulos V; Bahi-Buisson N; Wiame E; Hubert L; Boddaert N; Kaminska A; Habarou F; Desguerre I; Van Schaftingen E; Ottolenghi C; de Lonlay P
    Eur J Paediatr Neurol; 2016 Jan; 20(1):53-60. PubMed ID: 26610677
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 59(12):2413-2420. PubMed ID: 30348640
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
    Kraoua I; Wiame E; Kraoua L; Nasrallah F; Benrhouma H; Rouissi A; Turki I; Chaabouni H; Briand G; Kaabachi N; Van Schaftingen E; Gouider-Khouja N
    Neuropediatrics; 2013 Oct; 44(5):281-5. PubMed ID: 23564319
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.
    Cavole TR; Perrone E; Lucena de Castro FSC; Alvarez Perez AB; Waitzberg AFL; Cernach MCSP
    Am J Med Genet A; 2020 Jun; 182(6):1473-1476. PubMed ID: 32196970
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
    Tabatabaie L; Klomp LW; Rubio-Gozalbo ME; Spaapen LJ; Haagen AA; Dorland L; de Koning TJ
    J Inherit Metab Dis; 2011 Feb; 34(1):181-4. PubMed ID: 21113737
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of
    Ali A; Dhahouri NA; Almesmari FSA; Fathalla WM; Jasmi FA
    Genes (Basel); 2021 May; 12(5):. PubMed ID: 34066864
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Prenatal genetic diagnosis of Neu-Laxova syndrome.
    Wood AM; Mottola AT; Rhee EH; Kuller JA
    J Obstet Gynaecol; 2018 Apr; 38(3):413-414. PubMed ID: 28903583
    [No Abstract]   [Full Text] [Related]  

  • 16. 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; 40(5):577-584. PubMed ID: 31994750
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Serine biosynthesis and transport defects.
    El-Hattab AW
    Mol Genet Metab; 2016 Jul; 118(3):153-159. PubMed ID: 27161889
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome.
    Ni C; Cheng RH; Zhang J; Liang JY; Wei RQ; Li M; Yao ZR
    Eur J Dermatol; 2019 Dec; 29(6):641-646. PubMed ID: 31903955
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.
    De Koning TJ; Duran M; Van Maldergem L; Pineda M; Dorland L; Gooskens R; Jaeken J; Poll-The BT
    J Inherit Metab Dis; 2002 May; 25(2):119-25. PubMed ID: 12118526
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 83(1):44-52. PubMed ID: 36308023
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.