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Lista de obras de Anna Tylki-Szymanska

A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism

scientific article published on 12 July 2020

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

artículo científico publicado en 2005

A further report of Brachmann-de Lange syndrome in two sibs with normal parents.

artículo científico publicado en 1995

A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses

artículo científico publicado en 2004

A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy

artículo científico publicado en 2013

A newly discovered metabolic diseases due to defects in the pentose pathway

artículo científico publicado en 2011

A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease

artículo científico publicado en 2011

ATP6AP1-CDG: Follow-up and female phenotype

scientific article published on 09 April 2020

Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses

scientific article published on 15 March 2007

Activation of mammalian terget of rapamycin kinase and glycogen synthase kinase-3β accompanies abnormal accumulation of cholesterol in fibroblasts from Niemann-Pick type C patients

artículo científico publicado en 2018

Adenylosuccinate lyase deficiency.

artículo científico publicado en 2014

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

artículo científico publicado en 2006

Aminoacylase 1 deficiency associated with autistic behavior

artículo científico publicado en 2010

Analysis of voice quality in patients with late-onset Pompe disease.

artículo científico publicado en 2016

Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis.

artículo científico publicado en 2017

Annexins in Niemann-Pick type C disease

artículo científico publicado en 2007

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

artículo científico publicado en 2010

Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.

artículo científico publicado en 2013

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

Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study

artículo científico publicado en 2005

Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease

artículo científico publicado en 2015

Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.

artículo científico

CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

artículo científico publicado en 2015

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure

artículo científico publicado en 2012

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

scientific article published on 06 July 2011

Carpal tunnel syndrome in children with mucopolysaccharidoses: needs for surgical tendons and median nerve release

artículo científico publicado en 1988

Cervical spine MRI findings in patients with Mucopolysaccharidosis type II.

artículo científico publicado en 2015

Changes in hair morphology as a biomarker in gene expression-targeted isoflavone therapy for Sanfilippo disease

artículo científico publicado en 2012

Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human alpha-L-iduronidase (laronidase, Aldurazyme)

artículo científico publicado en 2005

Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease

scientific article published on 01 March 2000

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years

artículo científico publicado en 2012

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

artículo científico publicado en 2008

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial

artículo científico publicado en 2015

Characterization of neuronopathic Gaucher disease among ethnic Poles

scientific article published on 01 January 2006

Cholesterol as a factor regulating intracellular localization of annexin A6 in Niemann-Pick type C human skin fibroblasts.

artículo científico publicado en 2009

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Clinical and molecular characteristics of two transaldolase-deficient patients

artículo científico publicado en 2014

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

artículo científico publicado en 2017

Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy).

artículo científico publicado en 2002

Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease ⬇️

artículo científico publicado el 1 de diciembre de 1997

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

artículo científico publicado en 2008

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

scientific article published on 01 January 2019

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

artículo científico publicado en 2018

Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

scientific article published on 06 August 2020

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.

artículo científico publicado en 2018

Controlled attenuation parameter and liver stiffness measurements using transient elastography by FibroScan in Gaucher disease

scientific article published on 01 November 2019

Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis

scientific article published on 30 November 2008

D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect

artículo científico publicado en 2008

Decreasing serum VLCFA levels in ageing X-ALD female carriers

scientific article published on 01 December 2001

Demonstration of glucose-6-phosphate hydrogen 5 enrichment from deuterated water by transaldolase-mediated exchange alone

artículo científico publicado en 2015

Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients

scientific article published on 01 October 2018

Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa

artículo científico publicado en 2018

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment

scientific article published on 01 August 2018

Effect of glycerol trioleate oil milk formula administration on very long chain fatty acid levels and clinical course in a patient with Zellweger syndrome

scientific article published on 01 October 1995

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 and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

artículo científico publicado en 2018

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

Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses

artículo científico publicado en 2020

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

artículo científico publicado en 2011

Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele

artículo científico publicado en 1997

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

artículo científico publicado el 1 de diciembre de 2012

Enzyme replacement therapy for Fabry disease: a systematic review of available evidence

artículo científico publicado en 2009

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 type III Gaucher disease

artículo científico publicado en 1999

European expert consensus statement on therapeutic goals in Fabry disease

scholarly article by Christoph Wanner published in July 2018

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

artículo científico publicado en 2009

Female Fabry disease patients and X-chromosome inactivation

artículo científico publicado en 2017

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders

artículo científico publicado en 2010

Follow-up analysis of voice quality in patients with late-onset Pompe disease

Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease

artículo científico publicado en 2009

Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool

artículo científico publicado en 2011

Gastroenterological complications of Anderson-Fabry disease

artículo científico publicado en 2013

Gastrointestinal phenotype of fabry disease in a patient with pseudoobstruction syndrome.

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Gaucher disease diagnosed after bone marrow trephine biopsy - a report of two cases

artículo científico publicado en 2011

Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy

scientific article published on 16 September 2011

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

artículo científico publicado en 2004

Gaucher's disease in Lithuania: its diagnosis and treatment

artículo científico publicado el 1 de enero de 2011

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

artículo científico publicado en 2006

Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

scientific article published on April 2008

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

High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy

artículo científico publicado en 2002

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II

artículo científico publicado en 1998

Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type

scientific article published on 01 January 2005

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

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

artículo científico publicado en 2011

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

artículo científico publicado en 1997

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

artículo científico publicado en 1997

Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey

artículo científico publicado en 2011

Impaired dynamics of the late endosome/lysosome compartment in human Niemann-Pick type C skin fibroblasts carrying mutation in NPC1 gene

artículo científico publicado en 2012

Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT)

scientific article published on 10 August 2011

Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland

scientific article published on 01 April 2003

Interaction of AnxA6 with isolated and artificial lipid microdomains; importance of lipid composition and calcium content

artículo científico publicado en 2013

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome

scientific article published on 23 October 2018

Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.

artículo científico publicado en 2002

Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome

scientific article published on 13 March 2006

Late form of Pompe disease with glycogen storage in peripheral nerves axons

artículo científico publicado en 2010

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype

artículo científico publicado en 2006

Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation: high outcome variation between two siblings

artículo científico publicado en 2014

Lipidoses detected in Poland through 1993

artículo científico publicado en 1994

Lipidoses in Poland.

artículo científico publicado en 1996

Liver involvement in NGLY1 congenital disorder of deglycosylation

artículo científico publicado en 2020

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

scientific article published on 23 September 2020

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients

artículo científico publicado en 2018

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

artículo científico publicado en 2016

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial

scientific article published on 03 April 2019

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

artículo científico publicado en 2014

MRI findings in an asymptomatic boy with X-linked adrenoleukodystrophy and his symptomatic mother

artículo científico publicado en 2001

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

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

artículo científico publicado en 2016

Management of neuronopathic Gaucher disease: a European consensus.

artículo científico publicado en 2001

Management of neuronopathic Gaucher disease: revised recommendations

artículo científico publicado en 2009

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

artículo científico publicado en 2008

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

artículo científico publicado en 2017

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants

scientific article published on 18 October 2019

Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases

scientific article published on 20 December 2018

Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease.

artículo científico publicado en 2016

Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature

artículo científico publicado en 2020

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

scientific article published on 11 November 2011

Molecular and clinical consequences of novel mutations in the arylsulfatase A gene

artículo científico publicado en 2008

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.

artículo científico publicado en 2005

Molecular bases of metachromatic leukodystrophy in Polish patients

articulo cientifico

Monitoring of dipeptidyl peptidase-IV (DPP-IV) activity in patients with mucopolysaccharidoses types I and II on enzyme replacement therapy - Results of a pilot study

artículo científico publicado en 2015

Monitoring of very long-chain fatty acids levels in X-linked adrenoleukodystrophy, treated with haematopoietic stem cell transplantation and Lorenzo's Oil.

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Mucopolysaccharidosis type II, Hunter's syndrome.

artículo científico publicado en 2014

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

artículo científico publicado en 2011

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

artículo científico publicado en 2013

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

Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries

artículo científico publicado en 2005

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

artículo científico publicado en 2009

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)

artículo científico publicado en 1995

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm

artículo científico publicado en 2020

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls

scientific article published on 21 May 2020

Nephrological abnormalities in patients with transaldolase deficiency

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

artículo científico publicado en 2010

Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods.

artículo científico publicado en 2017

Non-neuronopathic Gaucher disease due to saposin C deficiency.

artículo científico publicado en 2007

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

artículo científico publicado en 2019

Occurrence, distribution, and phenotype of arylsulfatase A mutations in patients with metachromatic leukodystrophy

artículo científico publicado en 1997

Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. Immunological regulation of the osteoarticular system in the course of metabolic inflammation

artículo científico publicado en 2013

Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases.

artículo científico publicado en 2007

Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.

artículo científico publicado en 2015

Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience

scientific article published on 13 May 2020

Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight

artículo científico publicado en 2018

Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members

artículo científico publicado en 1998

Precocious puberty in three boys with Sanfilippo A (mucopolysaccharidosis III A).

artículo científico publicado en 1995

Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland

artículo científico publicado en 2000

Prevalence rates of mucopolysaccharidoses in Poland

artículo científico publicado en 2014

Progressive macrophage accumulation in lysosomal acid lipase deficiency

artículo científico publicado en 2020

Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review

artículo científico publicado en 2020

Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy

artículo científico publicado en 2007

Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group

scientific article published on 31 January 2019

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

artículo científico publicado en 2015

Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage

artículo científico publicado en 2012

Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy

scientific article published on 02 November 2011

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 enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease

artículo científico publicado en 2007

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

artículo científico publicado en 2013

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting

artículo científico publicado en 2010

Schimke immuno-osseous dysplasia: two cases

scientific article published on 10 December 2002

Serum chitotriosidase activity in Gaucher patients on enzyme replacement therapy (ERT)

scientific article published on 01 July 1998

Serum hyaluronidase aberrations in metabolic and morphogenetic disorders

artículo científico publicado en 2005

Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland

artículo científico publicado en 2009

Source document verification in the Mucopolysaccharidosis Type I Registry

artículo científico publicado en 2011

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

artículo científico

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.

artículo científico publicado en 2017

The development of cognitive functions in children with Hurler phenotype mucopolysaccharidosis type I on enzyme replacement therapy with laronidase

artículo científico publicado el 1 de enero de 2010

The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts

artículo científico publicado en 2018

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

artículo científico publicado en 2014

The impact of a ketogenic diet and liver dysfunction on serum very long-chain fatty acids levels

artículo científico publicado en 2013

The importance of anthropological methods in the diagnosis of rare diseases

scientific article published on 01 April 2019

Therapeutic goals in the treatment of Gaucher disease.

artículo científico publicado en 2004

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

artículo científico publicado en 2015

Transaldolase deficiency in two new patients with a relative mild phenotype

artículo científico publicado en 2009

Two-year follow-up of Sanfilippo Disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients

artículo científico publicado en 2011

Type III D mucopolysaccharidosis (Sanfilippo D): clinical course and symptoms

artículo científico publicado en 1998

Tyrosinemia type III in an asymptomatic girl

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

artículo científico publicado en 2020

Very long-chain fatty acids in Rett syndrome

artículo científico publicado en 1999

Voice alterations in patients with Morquio A syndrome.

artículo científico publicado en 2017

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

artículo científico publicado en 2010

[Analysis of the densitometric method of hand bone radiograms and assessment of early changes of bone structure in the children with Gaucher s disease on enzyme replacement therapy (ERT)]

artículo científico publicado en 2007

[Analysis of the densitometric method of hand bone radiograms and assessment of early changes of bone structure in the children with Gaucher's disease on enzyme replacement therapy (ERT)]

artículo científico publicado en 2007

[Diagnostic problems in a 17-year-old patient with gastrointestinal manifestations of Fabry disease]

artículo científico publicado en 2011

[Gaucher disease--one of the possible causes of splenomegaly--case report]

artículo científico publicado en 2004

[Lysosomal storage diseases--an overview]

artículo científico publicado en 2011

[Mucopolysaccharidoses--biochemical mechanisms of diseases and therapeutic possibilities]

artículo científico publicado en 2011

[Pathogenesis of lipid storage diseases]

artículo científico publicado en 2011

[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process]

artículo científico publicado en 2018

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