192 related articles for article (PubMed ID: 30348640)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. [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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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; ; Boycott KM
Am J Med Genet A; 2019 May; 179(5):813-816. PubMed ID: 30838783
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [Essentiality of de novo L-serine synthesis for embryonic development and higher functions].
Furuya S; Sayano T; Esaki K
Seikagaku; 2014 Jun; 86(3):372-81. PubMed ID: 25073376
[No Abstract] [Full Text] [Related]
15. 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; 123(3):309-316. PubMed ID: 29269105
[TBL] [Abstract][Full Text] [Related]
16. Hepatocyte-Specific
Hamano M; Esaki K; Moriyasu K; Yasuda T; Mohri S; Tashiro K; Hirabayashi Y; Furuya S
Nutrients; 2021 Sep; 13(10):. PubMed ID: 34684470
[TBL] [Abstract][Full Text] [Related]
17. 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]
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; 43(13):1666-1670. PubMed ID: 37964427
[TBL] [Abstract][Full Text] [Related]
19. Serine Synthesis via PHGDH Is Essential for Heme Production in Endothelial Cells.
Vandekeere S; Dubois C; Kalucka J; Sullivan MR; García-Caballero M; Goveia J; Chen R; Diehl FF; Bar-Lev L; Souffreau J; Pircher A; Kumar S; Vinckier S; Hirabayashi Y; Furuya S; Schoonjans L; Eelen G; Ghesquière B; Keshet E; Li X; Vander Heiden MG; Dewerchin M; Carmeliet P
Cell Metab; 2018 Oct; 28(4):573-587.e13. PubMed ID: 30017355
[TBL] [Abstract][Full Text] [Related]
20. Phosphoglycerate dehydrogenase inhibition induces p-mTOR-independent autophagy and promotes multilineage differentiation in embryonal carcinoma stem-like cells.
Sharif T; Martell E; Dai C; Ghassemi-Rad MS; Lee K; Singh SK; Weaver ICG; Gujar S
Cell Death Dis; 2018 Sep; 9(10):990. PubMed ID: 30250195
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
