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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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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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Ketogenic diet in the treatment of refractory epilepsy

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

2008

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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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Noonan and Williams syndromes--basic differential diagnosis

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

Bzdúch, V

1995

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Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)

Human mutation, 2000-02, Vol.15 (2), p.206-206

2000

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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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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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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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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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History of Williams syndrome

Časopis lékařů českých, 2002-10, Vol.141 (20), p.651

2002

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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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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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Glucose transporter type 1 (GLUT-1) deficiency

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

2008

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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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Williams syndrome in Slovakia

American journal of medical genetics, 1996-11, Vol.65 (4), p.366-366

Bzdúch, Vladimír

1996

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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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Hypercalcemic phase of williams syndrome

The Journal of pediatrics, 1993-09, Vol.123 (3), p.496-496

Bzdúch, Vladimír

1993

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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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A new approach to cholesterol

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

2001

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The founding of the Williams Syndrome Society

Československá pediatrie, 1993-03, Vol.48 (3), p.186

Bzdúch, V

1993

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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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Ophthalmological Finding in the Patient with Lowe Syndrome

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

Ketogenic diet in the treatment of refractory epilepsy

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

Noonan and Williams syndromes--basic differential diagnosis

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)

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

Transient hyperphosphatasemia of infancy and childhood: study of 194 cases

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

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

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

History of Williams syndrome

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

Rare disease day, conference 29.2.2012 - Poster Session

Glucose transporter type 1 (GLUT-1) deficiency

Glucose transporter type 1 (GLUT-1) deficiency

Williams syndrome in Slovakia

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

Hypercalcemic phase of williams syndrome

Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol

A new approach to cholesterol

The founding of the Williams Syndrome Society

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

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