Lista de obras - Agnieszka Jurecka - Dominio Público Uruguay

Adenylosuccinate lyase deficiency.

artículo científico publicado en 2014

Aminoacylase 1 deficiency associated with autistic behavior

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Growth patterns in children with mucopolysaccharidosis I and II.

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

Inborn errors of purine and pyrimidine metabolism.

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado el 31 de mayo de 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.

artículo científico publicado en 2012

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.

artículo científico publicado en 2014

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

artículo científico

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

scientific article published in 2021

Prevalence rates of mucopolysaccharidoses in Poland

artículo científico publicado en 2014

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

artículo científico publicado el 1 de diciembre de 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.

artículo científico

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

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 2010

[Inborn errors of purine and pyrimidyne metabolism]

artículo científico publicado en 2011

Lista de obras de Agnieszka Jurecka

Adenylosuccinate lyase deficiency.

Aminoacylase 1 deficiency associated with autistic behavior

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

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

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

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

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

Cervical spine MRI findings in patients with Mucopolysaccharidosis type II.

Clinical manifestations and management of fatty acid oxidation disorders

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

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]

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

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

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

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

Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up

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

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

Growth patterns in children with mucopolysaccharidosis I and II.

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

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

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

Inborn errors of purine and pyrimidine metabolism.

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

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

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

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

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

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

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

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

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

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

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

Prevalence rates of mucopolysaccharidoses in Poland

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

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

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

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

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

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

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

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

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

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

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

[Inborn errors of purine and pyrimidyne metabolism]