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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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Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation

Bratislava Medical Journal, 2021, Vol.122 (3), p.190-195

2021

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Molecular analysis of genes involved in lipoprotein lipase deficiency in Slovak patients with familial chylomicronemia

Atherosclerosis, 2016-09, Vol.252, p.e73-e73

2016

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GAI - distinct genotype and phenotype characteristics in reported Slovak patients

Bratislava Medical Journal, 2016-01, Vol.117 (11), p.631-638

2016

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Cardiorenal syndrome and later-onset Fabry disease: is there a connection?

Bratislavské lékarské listy, 2007, Vol.108 (4-5), p.169-169

Bzduch, V

2007

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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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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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Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease

Genetics in medicine, 2009-04, Vol.11 (4), p.256-264

2009

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Ophthalmological Finding in the Patient with Lowe Syndrome

Česká a slovenská oftalmologie, 2018, Vol.74 (3/2018), p.102-104

2018

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Smith–Lemli–Opitz syndrome: Molecular‐genetic analysis of ten families

Journal of inherited metabolic disease, 2000-06, Vol.23 (4), p.409-412

2000

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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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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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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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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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A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene

Bratislavské lékarské listy, 2004, Vol.105 (9), p.299-302

2004

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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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Rare cause of post-squalene disorder of cholesterol biosynthesis

Nigerian journal of paediatrics, 2011-12, Vol.39 (1)

2011

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Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn

Neuro-endocrinology letters, 2009, Vol.30 Suppl 1, p.29-31

2009

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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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Metabolic cause of Reye-like syndrome

Bratislavské lékarské listy, 2001, Vol.102 (9), p.427-429

2001

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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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Noonan and Williams syndromes--basic differential diagnosis

Clinical pediatrics, 1995-11, Vol.34 (11), p.622-623

Bzdúch, V

1995

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

Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation

Molecular analysis of genes involved in lipoprotein lipase deficiency in Slovak patients with familial chylomicronemia

GAI - distinct genotype and phenotype characteristics in reported Slovak patients

Cardiorenal syndrome and later-onset Fabry disease: is there a connection?

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

Glucose transporter type 1 (GLUT-1) deficiency

Glucose transporter type 1 (GLUT-1) deficiency

Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease

Ophthalmological Finding in the Patient with Lowe Syndrome

Smith–Lemli–Opitz syndrome: Molecular‐genetic analysis of ten families

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

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

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

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

Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency

A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene

Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol

Rare cause of post-squalene disorder of cholesterol biosynthesis

Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn

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

Metabolic cause of Reye-like syndrome

Ketogenic diet in the treatment of refractory epilepsy

Noonan and Williams syndromes--basic differential diagnosis

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