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Items: 1 to 20 of 117

1.

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
2.

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. doi: 10.1007/s10545-010-9249-5. Epub 2010 Nov 27.

3.

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
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.

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

Jaeken J, Detheux M, Van Maldergem L, Foulon M, Carchon H, Van Schaftingen E.

Arch Dis Child. 1996 Jun;74(6):542-5.

6.

3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures.

Coşkun T, Aydin HI, Kiliç M, Dursun A, Haliloğlu G, Topaloğlu H, Karli-Oğuz K, de Koning TJ.

Turk J Pediatr. 2009 Nov-Dec;51(6):587-92.

PMID:
20196394
7.

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency.

de Koning TJ, Klomp LW, van Oppen AC, Beemer FA, Dorland L, van den Berg I, Berger R.

Lancet. 2004 Dec 18-31;364(9452):2221-2.

PMID:
15610810
8.

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.

PMID:
12118526
9.

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.

10.

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.

11.

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.

de Koning TJ, Duran M, Dorland L, Gooskens R, Van Schaftingen E, Jaeken J, Blau N, Berger R, Poll-The BT.

Ann Neurol. 1998 Aug;44(2):261-5.

PMID:
9708551
12.

An update on serine deficiency disorders.

van der Crabben SN, Verhoeven-Duif NM, Brilstra EH, Van Maldergem L, Coskun T, Rubio-Gozalbo E, Berger R, de Koning TJ.

J Inherit Metab Dis. 2013 Jul;36(4):613-9. doi: 10.1007/s10545-013-9592-4. Epub 2013 Mar 6.

PMID:
23463425
13.

Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.

de Koning TJ, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van der Knaap MS.

Neuropediatrics. 2000 Dec;31(6):287-92.

PMID:
11508546
14.

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.

15.

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW.

Hum Mutat. 2009 May;30(5):749-56. doi: 10.1002/humu.20934.

PMID:
19235232
16.

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
17.

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

Méneret A, Wiame E, Marelli C, Lenglet T, Van Schaftingen E, Sedel F.

Arch Neurol. 2012 Jul;69(7):908-11.

PMID:
22393170
18.

Treatment with amino acids in serine deficiency disorders.

de Koning TJ.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):347-51. Review.

PMID:
16763900
19.

Serine-deficiency syndromes.

de Koning TJ, Klomp LW.

Curr Opin Neurol. 2004 Apr;17(2):197-204. Review.

PMID:
15021249
20.

[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. Review. Japanese. No abstract available.

PMID:
25073376

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