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Items: 1 to 20 of 216

1.

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 5;94(6):898-904. doi: 10.1016/j.ajhg.2014.04.015. Epub 2014 May 15.

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. doi: 10.1002/ajmg.a.36930. Epub 2015 Apr 25.

PMID:
25913727
3.

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 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21.

4.

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. doi: 10.1177/0883073817690094. Epub 2017 Jan 31.

PMID:
28135894
5.

[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. doi: 10.1016/j.annpat.2016.04.004. Epub 2016 Jul 27. Review. French.

PMID:
27475004
6.

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. doi: 10.1016/j.ejpn.2015.10.007. Epub 2015 Nov 5.

PMID:
26610677
7.

Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.

Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R.

Am J Hum Genet. 2000 Dec;67(6):1389-99. Epub 2000 Oct 27.

8.

The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib.

Tolmie JL, Mortimer G, Doyle D, McKenzie R, McLaurin J, Neilson JP.

Am J Med Genet. 1987 May;27(1):175-82.

PMID:
3300330
9.

Neu-Laxova syndrome: pathological, radiological, and prenatal findings in a stillborn female.

Russo R, D'Armiento M, Martinelli P, Ventruto V.

Am J Med Genet. 1989 Jan;32(1):136-9.

PMID:
2650548
10.

Inactivation of the 3-phosphoglycerate dehydrogenase gene in mice: changes in gene expression and associated regulatory networks resulting from serine deficiency.

Furuya S, Yoshida K, Kawakami Y, Yang JH, Sayano T, Azuma N, Tanaka H, Kuhara S, Hirabayashi Y.

Funct Integr Genomics. 2008 Aug;8(3):235-49. doi: 10.1007/s10142-007-0072-5. Epub 2008 Jan 29.

PMID:
18228065
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. doi: 10.1055/s-0033-1338133. Epub 2013 Apr 6. Review.

PMID:
23564319
12.

Neu Laxova syndrome in two Egyptian families.

Abdel Meguid N, Temtamy SA.

Am J Med Genet. 1991 Oct 1;41(1):30-1.

PMID:
1951459
13.

Impaired neurogenesis in embryonic spinal cord of Phgdh knockout mice, a serine deficiency disorder model.

Kawakami Y, Yoshida K, Yang JH, Suzuki T, Azuma N, Sakai K, Hashikawa T, Watanabe M, Yasuda K, Kuhara S, Hirabayashi Y, Furuya S.

Neurosci Res. 2009 Mar;63(3):184-93. doi: 10.1016/j.neures.2008.12.002. Epub 2008 Dec 11.

PMID:
19114063
14.

Neu-Laxova syndrome: a case report.

Roy S, Begum J, Sharifunnaher B, Saha AK, Afroza S, Islam MZ.

Mymensingh Med J. 2014 Jan;23(1):167-9.

PMID:
24584393
15.

Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.

Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE.

Am J Med Genet A. 2004 Mar 15;125A(3):240-9. Review.

PMID:
14994231
16.

Second trimester diagnosis of Neu Laxova syndrome.

Shivarajan MA, Suresh S, Jagadeesh S, Lata S, Bhat L.

Prenat Diagn. 2003 Jan;23(1):21-4.

PMID:
12533807
17.

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.

Chandler KE, Del Rio A, Rakshi K, Springell K, Williams DK, Stoodley N, Woods CG, Pilz DT.

Brain. 2006 Jan;129(Pt 1):272-7. Epub 2005 Nov 4.

PMID:
16272165
18.

Neu-Laxova syndrome: report of a case from Turkey.

Kuseyri F, Bilge I, Bilgiç L, Apak MY.

Clin Genet. 1993 May;43(5):267-9.

PMID:
8375108
19.

Neu-Laxova syndrome: a prenatal diagnosis.

Dhillon P, Bofill JA.

J Miss State Med Assoc. 2011 Oct;52(10):307-9.

PMID:
22268252
20.

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

Ben-Salem S, Gleeson JG, Al-Shamsi AM, Islam B, Hertecant J, Ali BR, Al-Gazali L.

Metab Brain Dis. 2015 Jun;30(3):687-94. doi: 10.1007/s11011-014-9618-0. Epub 2014 Sep 17.

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