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Results: 1 to 20 of 101

Similar articles for PubMed (Select 15610810)

1.

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
2.

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
3.

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
4.

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.

5.

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
6.
7.

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
8.

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.

9.

3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome.

Pineda M, Vilaseca MA, Artuch R, Santos S, García González MM, Aracil A, Van Schaftingen E, Jaeken J.

Dev Med Child Neurol. 2000 Sep;42(9):629-33.

PMID:
11034457
10.

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.

Jaeken J, Detheux M, Van Maldergem L, Frijns JP, Alliet P, Foulon M, Carchon H, Van Schaftingen E.

J Inherit Metab Dis. 1996;19(2):223-6. No abstract available.

PMID:
8739971
11.

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.

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.

Serine-deficiency syndromes.

de Koning TJ, Klomp LW.

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

PMID:
15021249
14.

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
15.

Treating rare inborn errors of metabolism.

Pollitt RJ, Sharrard MJ.

Lancet. 2004 Dec 18-31;364(9452):2158-60. No abstract available.

PMID:
15610786
16.

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.

17.

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.

18.

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
19.

V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.

Pind S, Slominski E, Mauthe J, Pearlman K, Swoboda KJ, Wilkins JA, Sauder P, Natowicz MR.

J Biol Chem. 2002 Mar 1;277(9):7136-43. Epub 2001 Dec 20.

20.

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
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