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List of works by Agnieszka Jurecka

Adenylosuccinate lyase deficiency.

scientific article

Aminoacylase 1 deficiency associated with autistic behavior

scientific article

Anthropometric data of 14 patients with mucopolysaccharidosis I: retrospective analysis and efficacy of recombinant human alpha-L-iduronidase (laronidase).

scientific article published in January 2010

Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

scientific article

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

scientific article

Can Macrosomia or Large for Gestational Age Be Predictive of Mucopolysaccharidosis Type I, II and VI?

scientific article published on 30 September 2015

Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

scientific article published on 06 July 2011

Cervical spine MRI findings in patients with Mucopolysaccharidosis type II.

scientific article

Clinical manifestations and management of fatty acid oxidation disorders

scientific article published on 11 July 2020

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

scientific article published on 3 June 2008

Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]

scientific article published on 22 August 2020

Diagnostic difficulties in patients with attenuated form of MPS VI

Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature

scientific article published on 17 August 2012

Effect of rapid cessation of enzyme replacement therapy: a report of 5 more cases

scientific article published on 06 September 2013

Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients

scientific article published on 09 March 2010

Enzyme Replacement Therapy in an Attenuated Case of Mucopolysaccharidosis Type I (Scheie Syndrome): A 6.5-Year Detailed Follow-Up ⬇️

scientific article published on 01 December 2012

Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up

scientific article published on 29 June 2011

Gaucher disease and dysgammaglobulinemia: a report of 61 patients, including 18 with GD type III

scientific article published on 21 August 2010

Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II.

scientific article published on 5 November 2010

Growth patterns in children with mucopolysaccharidosis I and II.

scientific article published on 20 November 2014

Gynecomastia in MPS IIIA boys: related to treatment or precocious puberty?

scientific article published on 16 October 2013

Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype

scientific article

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations

scientific article published on 21 November 2008

Inborn errors of purine and pyrimidine metabolism.

scientific article published on 15 March 2009

Infections of the male urogenital tract and the problem of infertility in the couple

scientific article published on January 2004

Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease

scientific article published on January 2014

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature ⬇️

scientific article published on May 31, 2011

Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia

scientific article published on 11 November 2011

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.

scientific article

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype

scientific article published on 27 August 2011

Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.

scientific article

Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment.

scientific article published on 16 June 2012

Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene

scientific article published on 30 April 2013

Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency

scientific article

Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

scientific article published in 2021

Prevalence rates of mucopolysaccharidoses in Poland

scientific article published on 4 December 2014

Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status ⬇️

scientific article published on December 1, 2011

Safety and Efficacy of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia (HoFH): Results from the AEGR-733-301 Long-Term Extension Study

article published in 2019

Spinal cord compression in Maroteaux-Lamy syndrome: case report and review of the literature with effects of enzyme replacement therapy.

scientific article published on 21 December 2012

The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II.

scientific article published on 13 January 2014

The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII

scientific article published on 11 January 2020

The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.

scientific article published on 30 October 2013

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

scientific article published on 10 February 2015

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.

scientific article published in January 2005

Ultrasonographic Features of Hip Joints in Mucopolysaccharidoses Type I and II.

scientific article published on 29 April 2015

Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII

scientific article published on 06 March 2020

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient

scientific article published on 14 January 2010

[Inborn errors of purine and pyrimidyne metabolism]

scientific article published in January 2011

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