161 related articles for article (PubMed ID: 32579715)
1. 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]
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. 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. 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]
5. 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]
6. 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]
7. 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]
8. 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]
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; 32(6):543-549. PubMed ID: 28135894
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. 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]
12. 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]
13. 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; 66(11):104852. PubMed ID: 37758168
[TBL] [Abstract][Full Text] [Related]
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; 59(12):2413-2420. PubMed ID: 30348640
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Debs S; Ferreira CR; Groden C; Kim HJ; King KA; King MC; Lehky T; Cowen EW; Brown LH; Merideth M; Owen CM; Macnamara E; Toro C; Gahl WA; Soldatos A
Am J Med Genet A; 2021 Jul; 185(7):2102-2107. PubMed ID: 34089226
[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. 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]
19. 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]
20. Neu-Laxova Syndrome: An Unusual Association with Kyphosis.
Kaur A; Suranagi V; Patil K; Bannur H
Turk Patoloji Derg; 2018; 34(3):259-261. PubMed ID: 28272663
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
