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Items: 1 to 20 of 70

1.

Fatal cerebral edema associated with serine deficiency in CSF.

Keularts IM, Leroy PL, Rubio-Gozalbo EM, Spaapen LJ, Weber B, Dorland B, de Koning TJ, Verhoeven-Duif NM.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S181-5. doi: 10.1007/s10545-010-9067-9. Epub 2010 Mar 19.

2.

Brain energy metabolism in patients with spontaneous subarachnoid hemorrhage and global cerebral edema.

Zetterling M, Hallberg L, Hillered L, Karlsson T, Enblad P, Ronne Engström E.

Neurosurgery. 2010 Jun;66(6):1102-10. doi: 10.1227/01.NEU.0000370893.04586.73.

PMID:
20495425
3.

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
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.

[Respiratory chain and pyruvate metabolism deficiencies in pediatric patients: evaluation of biochemical tests for selective screening].

Artuch R, Pineda M, Vilaseca MA, Briones P, Ribes A, Colomer J, Vernet A, Campistol J.

Rev Neurol. 1998 Jan;26(149):38-42. Spanish.

PMID:
9533203
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.

Cerebrospinal fluid investigations for neurometabolic disorders.

Hoffmann GF, Surtees RA, Wevers RA.

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

PMID:
9638660
8.

[Ekiri syndrome complicating shigellosis].

Núñez-Samudio V, Landires I.

Enferm Infecc Microbiol Clin. 2007 Aug-Sep;25(7):492-3. Spanish. No abstract available.

PMID:
17692219
9.

[Clinical significance of 5-HT and DA levels in serum and cerebrospinal fluid of the patients with delayed encephalopathy after acute carbon monoxide poisoning].

Gu RJ, Li WQ, Wang JK, Shi TY, Zhang P, Li SG, Zhang F, Lu H, Wang XH, Zhang HY, Guo XS.

Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi. 2011 Feb;29(2):121-4. Chinese.

PMID:
21619841
10.

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
11.

Relation between brain interstitial and systemic glucose concentrations after subarachnoid hemorrhage.

Zetterling M, Hillered L, Enblad P, Karlsson T, Ronne-Engström E.

J Neurosurg. 2011 Jul;115(1):66-74. doi: 10.3171/2011.3.JNS10899. Epub 2011 Apr 8.

PMID:
21476811
12.

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
13.

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
14.

Cerebrospinal fluid lactate and pyruvate concentrations and their ratio.

Zhang WM, Natowicz MR.

Clin Biochem. 2013 May;46(7-8):694-7. doi: 10.1016/j.clinbiochem.2012.11.008. Epub 2012 Nov 27.

PMID:
23195138
15.

[Blood glucose, urinary glucose, blood ketone bodies, urine ketone bodies, blood lactic acid, and blood pyruvic acid].

Shimizu I, Ishikawa E, Fukuda T, Okazaki S.

Nihon Rinsho. 2012 May;70 Suppl 3:433-7. Japanese. No abstract available.

PMID:
22768559
16.

Myelin basic protein in cerebrospinal fluid: a predictive marker of delayed encephalopathy from carbon monoxide poisoning.

Ide T, Kamijo Y.

Am J Emerg Med. 2008 Oct;26(8):908-12. doi: 10.1016/j.ajem.2007.11.021.

PMID:
18926351
17.

Association of degree and type of edema in posterior reversible encephalopathy syndrome with serum lactate dehydrogenase level: initial experience.

Gao B, Liu FL, Zhao B.

Eur J Radiol. 2012 Oct;81(10):2844-7. doi: 10.1016/j.ejrad.2011.12.010. Epub 2011 Dec 29.

PMID:
22209526
18.

The metabolic effect of dodecanedioic acid infusion in non-insulin-dependent diabetic patients.

Greco AV, Mingrone G, Capristo E, Benedetti G, De Gaetano A, Gasbarrini G.

Nutrition. 1998 Apr;14(4):351-7.

PMID:
9591306
19.

[Acute effect of 7% CO2 breathing on lactate, pyruvate and ketone body metabolism in healthy subjects].

Joon SJ.

Nihon Kokyuki Gakkai Zasshi. 2001 May;39(5):309-15. Japanese.

PMID:
11510091
20.

Respiratory chain deficiency in Alpers syndrome.

Gauthier-Villars M, Landrieu P, Cormier-Daire V, Jacquemin E, Chrétien D, Rötig A, Rustin P, Munnich A, de Lonlay P.

Neuropediatrics. 2001 Jun;32(3):150-2.

PMID:
11521212

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