Found: 12
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Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 5, p. 623, doi. 10.1007/s00431-012-1925-z
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- Publication type:
- Article
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
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- Publication type:
- Article
Reference ranges of serum bile acids in children and adolescents.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 11, p. 1807, doi. 10.1515/cclm-2014-1273
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- Publication type:
- Article
The predictive value of immature granulocyte count and immature myeloid information in the diagnosis of neonatal sepsis.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2012, v. 50, n. 8, p. 1429, doi. 10.1515/cclm-2011-0656
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- Publication type:
- Article
Reference ranges for neuroprotein S-100B: from infants to adolescents.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2008, v. 46, n. 9, p. 1296, doi. 10.1515/CCLM.2008.262
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- Publication type:
- Article
Culture proven newborn sepsis with a special emphasis on late onset sepsis caused by Enterobacteriaceae in a level III neonatal care unit in Astana, Kazakhstan.
- Published in:
- Wiener Klinische Wochenschrift, 2013, v. 125, n. 19/20, p. 611, doi. 10.1007/s00508-013-0416-1
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- Publication type:
- Article
Insulin Is an Independent Correlate of Plasma Homocysteine Levels in Obese Children and Adolescents.
- Published in:
- Diabetes Care, 2000, v. 23, n. 9, p. 1348
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- Publication type:
- Article
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d<sub>35</sub>-globotriaosylceramide as internal standard.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2005, v. 19, n. 11, p. 1499, doi. 10.1002/rcm.1948
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- Publication type:
- Article
Quantitative analysis of clindamycin in human plasma by liquid chromatography/electrospray ionisation tandem mass spectrometry using d<sub>1</sub>- N-ethylclindamycin as internal standard.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2003, v. 17, n. 2, p. 135, doi. 10.1002/rcm.887
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- Publication type:
- Article
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 5, p. 970, doi. 10.1007/s00415-014-7289-8
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- Publication type:
- Article
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
- Published in:
- Human Mutation, 2007, v. 28, n. 1, p. 19, doi. 10.1002/humu.20433
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- Publication type:
- Article
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
- Published in:
- 2000
- By:
- Publication type:
- journal article