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Items: 1 to 20 of 92

1.

Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders.

Moat S, Carling R, Nix A, Henderson M, Briddon A, Prunty H, Talbot R, Powell A, Wright K, Fuchs S, de Koning T.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):149-52. doi: 10.1016/j.ymgme.2010.07.006. Epub 2010 Jul 15.

PMID:
20692860
2.

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
3.

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.

4.

Continuing education in neurometabolic disorders--serine deficiency disorders.

de Koning TJ, Poll-The BT, Jaeken J.

Neuropediatrics. 1999 Feb;30(1):1-4. Review.

PMID:
10222452
5.

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
6.
7.

Serine-deficiency syndromes.

de Koning TJ, Klomp LW.

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

PMID:
15021249
8.

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
9.

Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.

Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E.

Am J Hum Genet. 2007 May;80(5):931-7. Epub 2007 Mar 30.

10.

Cerebrospinal fluid lactate and pyruvate concentrations and their ratio in children: age-related reference intervals.

Benoist JF, Alberti C, Leclercq S, Rigal O, Jean-Louis R, Ogier de Baulny H, Porquet D, Biou D.

Clin Chem. 2003 Mar;49(3):487-94.

11.

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
12.

Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice.

Leen WG, Willemsen MA, Wevers RA, Verbeek MM.

PLoS One. 2012;7(8):e42745. doi: 10.1371/journal.pone.0042745. Epub 2012 Aug 6.

13.

When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center.

Haliloğlu G, Vezir E, Baydar L, Onol S, Sivri S, Coşkun T, Topçu M.

Turk J Pediatr. 2012 Jan-Feb;54(1):52-8.

PMID:
22397043
14.

Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.

Karam PE, Habbal MZ, Mikati MA, Zaatari GE, Cortas NK, Daher RT.

Clin Biochem. 2013 Dec;46(18):1787-92. doi: 10.1016/j.clinbiochem.2013.08.009. Epub 2013 Aug 28.

PMID:
23994778
15.

One-methyl group metabolism in non-ketotic hyperglycinaemia: mildly elevated cerebrospinal fluid homocysteine levels.

Van Hove JL, Lazeyras F, Zeisel SH, Bottiglieri T, Hyland K, Charles HC, Gray L, Jaeken J, Kahler SG.

J Inherit Metab Dis. 1998 Dec;21(8):799-811.

PMID:
9870205
16.

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
17.

Development of a new biochemical test to diagnose and monitor neuroblastoma in Vietnam: homovanillic and vanillylmandelic acid by gas chromatography-mass spectrometry.

Tran MT, Baglin J, Tran TT, Hoang KT, Phung LT, Read A, Greaves RF.

Clin Biochem. 2014 Feb;47(3):206-15. doi: 10.1016/j.clinbiochem.2013.11.016. Epub 2013 Dec 1.

PMID:
24296288
18.

Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots.

Chen PW, Lee NC, Chien YH, Wu JY, Wang PC, Hwu WL.

Clin Chim Acta. 2014 Apr 20;431:19-22. doi: 10.1016/j.cca.2014.01.034. Epub 2014 Feb 7.

PMID:
24513538
20.

Cerebrospinal fluid investigations for neurometabolic disorders.

Hoffmann GF, Surtees RA, Wevers RA.

Neuropediatrics. 1998 Apr;29(2):59-71. Review.

PMID:
9638660

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