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  • 1-9 of  9 results for ""Vinohradska, Hana""
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Academic Journal

Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders

  • Source: In Selected Papers from the 35th International Symposium on Capillary Chromatography, the 26th International Symposium on MicroScale Bioseparations and the 8th GCxGC Symposium, San Diego, CA, USA, 1-5

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Academic Journal

Skin wipe test: A simple, inexpensive, and fast approach in the diagnosis of cystic fibrosis.

  • Authors : Ďurč P; Department of Bioanalytical Instrumentation, CEITEC Masaryk University, Brno, Czech Republic.; Department of Chemistry, Masaryk University Brno, Czech Republic.

  • Source: Pediatric pulmonology [Pediatr Pulmonol] 2020 Jul; Vol. 55 (7), pp. 1653-1660. Date of Electronic Publication: 2020 Apr 06.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Epidemiology of rare diseases detected by newborn screening in the Czech Republic.

  • Authors : David J; Department of Children and Adolescents, Third Faculty of Medicine, Charles University and University Hospital Kralovske Vinohrady, Prague, Czech Republic.; Department of Paediatrics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.

Subjects: Neonatal Screening/Neonatal Screening/Neonatal Screening/*methods ; Rare Diseases/Rare Diseases/Rare Diseases/*epidemiology; Biomarkers/Biomarkers/Biomarkers/blood

  • Source: Central European journal of public health [Cent Eur J Public Health] 2019 Jun; Vol. 27 (2), pp. 153-159.Publisher: TIGIS, Ltd. in association with the National Institute of Public Health Country of Publication: Czech Republic NLM ID: 9417324 Publication Model:

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Academic Journal

New approach for cystic fibrosis diagnosis based on chloride/potassium ratio analyzed in non-invasively obtained skin-wipe sweat samples by capillary electrophoresis with contactless conductometric detection.

  • Authors : Ďurč P; Department of Bioanalytical Instrumentation, CEITEC Masaryk University, Veveří 97, 602 00, Brno, Czech Republic.; Department of Chemistry, Masaryk University, Kotlářská 2, 611 37, Brno, Czech Republic.

Subjects: Chlorides/Chlorides/Chlorides/*analysis ; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*diagnosis ; Electrophoresis, Capillary/Electrophoresis, Capillary/Electrophoresis, Capillary/*methods

  • Source: Analytical and bioanalytical chemistry [Anal Bioanal Chem] 2017 May; Vol. 409 (14), pp. 3507-3514. Date of Electronic Publication: 2017 Mar 29.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101134327 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome.

  • Authors : Froňková E; CLIP, Department of Paediatric Haematology/Oncology, 2nd Medical School, Charles University Prague and University Hospital Motol, Prague, Czech Republic.; Klocperk A

Subjects: Neonatal Screening*; DNA, Circular/DNA, Circular/DNA, Circular/*genetics ; DiGeorge Syndrome/DiGeorge Syndrome/DiGeorge Syndrome/*diagnosis

  • Source: PloS one [PLoS One] 2014 Dec 08; Vol. 9 (12), pp. e114514. Date of Electronic Publication: 2014 Dec 08 (Print Publication: 2014).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Controlled diet in phenylketonuria and hyperphenylalaninemia may cause serum selenium deficiency in adult patients: the Czech experience.

  • Authors : Procházková D; Department of Pediatrics, University Hospital Brno, Medical Faculty of Masaryk University Brno, Cernopolni 9, Brno 62500, Czech Republic. ; Jarkovský J

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/blood ; Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/diet therapy ; Selenium*/Selenium*/Selenium*/blood

  • Source: Biological trace element research [Biol Trace Elem Res] 2013 Aug; Vol. 154 (2), pp. 178-84. Date of Electronic Publication: 2013 Jun 15.Publisher: Humana Press Country of Publication: United States NLM ID: 7911509 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Long-term treatment for hyperphenylalaninemia and phenylketonuria: a risk for nutritional vitamin B12 deficiency?

Subjects: Phenylketonurias/Phenylketonurias/Phenylketonurias/*complications ; Vitamin B 12 Deficiency/Vitamin B 12 Deficiency/Vitamin B 12 Deficiency/*etiology; Adolescent

  • Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2015 Nov 01; Vol. 28 (11-12), pp. 1327-32.Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Internet ISSN: 2191-0251

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  • 1-9 of  9 results for ""Vinohradska, Hana""