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Ketogenic diet in the treatment of refractory epilepsy

European journal of paediatric neurology, 2008, Vol.12, p.S44-S44

2008

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The role of CRP, PCT, IL-6 and presepsin in early diagnosis of bacterial infectious complications in paediatric haemato-oncological patients

Neoplasma, 2016, Vol.63 (5), p.752

2016

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P05.1 Efficacy and tolerability of miglustat in patients with Niemann – Pick C disease

European journal of paediatric neurology, 2011-05, Vol.15, p.S49-S49

2011

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Amount of folic acid in different types of nutrition used in the neonatal period

Bratislavské lékarské listy, 2015, Vol.116 (6), p.349-353

2015

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GAI - distinct genotype and phenotype characteristics in reported Slovak patients

Bratislavské lékarské listy, 2016-01, Vol.117 (11), p.631-638

2016

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Transient hyperphosphatasemia of infancy and childhood: study of 194 cases

Clinical chemistry (Baltimore, Md.), 2000-11, Vol.46 (11), p.1868-1869

2000

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Sacral dimple as a skin manifestation of the Smith–Lemli–Opitz syndrome

Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.269-270

2007

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MON-P287: Carglumic Acid in the Treatment of Hyperammonaemic Crisis in Patients with Propionic Aciduria – Our Experiences

Clinical nutrition (Edinburgh, Scotland), 2017-09, Vol.36, p.S284-S284

2017

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Serum lipids and apolipoproteins in children with the Smith–Lemli–Opitz syndrome

Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.413-415

2000

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Glucose transporter type 1 (GLUT-1) deficiency

Bratislavské lékarské listy, 2008, Vol.109 (5), p.245-245

2008

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Glucose transporter type 1 (GLUT-1) deficiency

Bratislavské lékarské listy, 2008, Vol.109 (10), p.471-472

2008

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Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol

Journal of inherited metabolic disease, 2000-09, Vol.23 (6), p.638-639

2000

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The thirteen new cases of isolated ATP synthase deficiency due to TMEM70 mutation in Slovakia: Clinical and biochemical findings

Clinical biochemistry, 2014-06, Vol.47 (9), p.769-769

2014

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Contribution of oligosaccharide investigation for diagnostics of lysosomal storage diseases in Slovakia

Clinical biochemistry, 2014-06, Vol.47 (9), p.779-779

2014

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Transient hyperphosphatasemia of infancy and childhood in a boy with idiopathic persistent hyperphosphatasemia

Clinical biochemistry, 2011-05, Vol.44 (7), p.523-523

2011

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Point-of-care testing in University Children's Hospital Bratislava

Clinical biochemistry, 2011-05, Vol.44 (7), p.545-546

2011

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Organic acidurias in Slovakia

Clinical biochemistry, 2011-05, Vol.44 (7), p.544-544

2011

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A new approach to cholesterol

Časopis lékařů českých, 2001-11, Vol.140 (22), p.685

2001

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Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic

Neuro-endocrinology letters, 2010, Vol.31 Suppl 2, p.5-7

2010

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Elevated serum biotinidase activity: a new view in diagnostics of hepatic glycogenoses

Clinical biochemistry, 2011-05, Vol.44 (7), p.532-533

2011

Volltextzugriff (PDF)

Transient hyperphosphatasemia: Revisited diagnostic criteria based on the study of 533 cases

Clinical biochemistry, 2011-05, Vol.44 (7), p.523-523

2011

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Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period

Bratislavské lékarské listy, 2003, Vol.104 (4-5), p.155-157

2003

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Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency

Bratislavské lékarské listy, 2003, Vol.104 (12), p.405-407

2003

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Targeted metabolomics for diagnosing of inherited metabolic disorders

Clinical biochemistry, 2011-05, Vol.44 (7), p.520-520

2011

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Increased acid phosphatase in isolated transitory hyperphosphatasemia

Časopis lékařů českých, 1992-05, Vol.131 (9), p.271

1992

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Ketogenic diet in the treatment of refractory epilepsy

The role of CRP, PCT, IL-6 and presepsin in early diagnosis of bacterial infectious complications in paediatric haemato-oncological patients

P05.1 Efficacy and tolerability of miglustat in patients with Niemann – Pick C disease

Amount of folic acid in different types of nutrition used in the neonatal period

GAI - distinct genotype and phenotype characteristics in reported Slovak patients

Transient hyperphosphatasemia of infancy and childhood: study of 194 cases

Sacral dimple as a skin manifestation of the Smith–Lemli–Opitz syndrome

MON-P287: Carglumic Acid in the Treatment of Hyperammonaemic Crisis in Patients with Propionic Aciduria – Our Experiences

Serum lipids and apolipoproteins in children with the Smith–Lemli–Opitz syndrome

Glucose transporter type 1 (GLUT-1) deficiency

Glucose transporter type 1 (GLUT-1) deficiency

Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol

The thirteen new cases of isolated ATP synthase deficiency due to TMEM70 mutation in Slovakia: Clinical and biochemical findings

Contribution of oligosaccharide investigation for diagnostics of lysosomal storage diseases in Slovakia

Transient hyperphosphatasemia of infancy and childhood in a boy with idiopathic persistent hyperphosphatasemia

Point-of-care testing in University Children's Hospital Bratislava

Organic acidurias in Slovakia

A new approach to cholesterol

Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic

Elevated serum biotinidase activity: a new view in diagnostics of hepatic glycogenoses

Transient hyperphosphatasemia: Revisited diagnostic criteria based on the study of 533 cases

Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period

Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency

Targeted metabolomics for diagnosing of inherited metabolic disorders

Increased acid phosphatase in isolated transitory hyperphosphatasemia

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