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The Reality of the Management in Patients with Rare Inborn Metabolic Diseases In Slovakia / Realita starostlivosti o pacientov so zriedkavými vrodenými metabolickými chorobami v SR

Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2013-03, Vol.60 (Supplementum-VIII), p.16-21

Hlavatá, A.

2013

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Increased plasma levels of the high mobility group box 1 protein (HMGB1) are associated with a higher score of gastrointestinal dysfunction in individuals with autism

Physiological research, 2014-01, Vol.63 Suppl 4, p.S613-S618

2014

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New Mutations Associated with Rasopathies in a Central European Population and Genotype–Phenotype Correlations

Annals of human genetics, 2016-01, Vol.80 (1), p.50-62

2016

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Orphan drugs used for treatment in pediatric patients in the slovak republic

Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2012-01, Vol.59 (Supplement-VI), p.28-34

2012

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Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2014-08, Vol.61 (1)

2014

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Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

Clinical genetics, 2017-05, Vol.91 (5), p.787-796

2017

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Rasopathies - dysmorphic syndromes with short stature and risk of malignancy

Endocrine regulations (Bratislava), 2013-10, Vol.47 (4), p.217-222

2013

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New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations: Rasopathies in Central Europe

Annals of human genetics, 2016-01, Vol.80 (1), p.50-62

2016

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Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma

Neoplasma, 2013-01, Vol.60 (6), p.655-665

2013

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Late onset form of Pompe disease

Bratislava Medical Journal, 2015, Vol.116 (8), p.502-505

2015

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Ratio of lipid parameters to coenzyme Q10 could be used as biomarker of the development of early complications of obesity in children

Bratislava Medical Journal, 2012, Vol.113 (1), p.21-25

2012

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Problems of metabolic syndrome diagnostics in children

Endocrine regulations (Bratislava), 2010-07, Vol.44 (3), p.115-120

2010

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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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Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

JAMA ophthalmology, 2020-10, Vol.138 (10), p.1035

2020

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Immunogenicity and tolerability of recombinant serogroup B meningococcal vaccine administered with or without routine infant vaccinations according to different immunization schedules: a randomized controlled trial

JAMA : the journal of the American Medical Association, 2012-02, Vol.307 (6), p.573

2012

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Rare disease day, conference 29.2.2012 - Poster Session

Acta Facultatis Pharmaceuticae Universitatis Comenianae, 2012-01, Vol.59 (Supplement-VII), p.18-66

2012

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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.65-65, Article 65

2015

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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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Persistence of Bactericidal Antibodies After Infant Serogroup B Meningococcal Immunization and Booster Dose Response at 12, 18 or 24 Months of Age

The Pediatric infectious disease journal, 2016-04, Vol.35 (4), p.e113-e123

2016

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Elevated immunoglobulin D levels in children with PFAPA syndrome

Neuro-endocrinology letters, 2010, Vol.31 (6), p.743-746

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

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Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families

Časopis lékařů českých, 2002-08, Vol.141 (17), p.551

2002

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Peroxisomal hereditary diseases

Bratislavské lékarské listy, 1997-01, Vol.98 (1), p.32-42

1997

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Bronchiectasis in Recklinghausen's disease

Československá pediatrie, 1990-10, Vol.45 (10), p.615

1990

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The Reality of the Management in Patients with Rare Inborn Metabolic Diseases In Slovakia / Realita starostlivosti o pacientov so zriedkavými vrodenými metabolickými chorobami v SR

Increased plasma levels of the high mobility group box 1 protein (HMGB1) are associated with a higher score of gastrointestinal dysfunction in individuals with autism

New Mutations Associated with Rasopathies in a Central European Population and Genotype–Phenotype Correlations

Orphan drugs used for treatment in pediatric patients in the slovak republic

Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

Genotype–phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II

Rasopathies - dysmorphic syndromes with short stature and risk of malignancy

New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations: Rasopathies in Central Europe

Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma

Late onset form of Pompe disease

Ratio of lipid parameters to coenzyme Q10 could be used as biomarker of the development of early complications of obesity in children

Problems of metabolic syndrome diagnostics in children

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

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease

Immunogenicity and tolerability of recombinant serogroup B meningococcal vaccine administered with or without routine infant vaccinations according to different immunization schedules: a randomized controlled trial

Rare disease day, conference 29.2.2012 - Poster Session

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

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

Persistence of Bactericidal Antibodies After Infant Serogroup B Meningococcal Immunization and Booster Dose Response at 12, 18 or 24 Months of Age

Elevated immunoglobulin D levels in children with PFAPA syndrome

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

Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families

Peroxisomal hereditary diseases

Bronchiectasis in Recklinghausen's disease

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