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Audiological and radiological study of eight polish patients with alpha-mannosidosis

International journal of pediatric otorhinolaryngology, 2023-06, Vol.169, p.111556-111556, Article 111556

2023

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Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise

Orphanet journal of rare diseases, 2022-04, Vol.17 (1), p.87-87, Article 87

2022

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

Osteoarthritis and cartilage, 2013-12, Vol.21 (12), p.1813-1823

2013

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The Impact of a Ketogenic Diet and Liver Dysfunction on Serum Very Long-Chain Fatty Acids Levels

Lipids, 2013-04, Vol.48 (4), p.405-409

2013

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Non-neuronopathic Gaucher disease due to saposin C deficiency

Clinical genetics, 2007-12, Vol.72 (6), p.538-542

2007

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

European journal of endocrinology, 2012-02, Vol.166 (2), p.291

2012

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

Clinical genetics, 2009-01, Vol.75 (1), p.57-64

2009

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

Blood cells, molecules, & diseases, 2018-02, Vol.68, p.203-208

2018

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Benefit of Sebelipase Alfa in Children and Adults with Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy by Baseline Alanine Aminotransferase Level

Journal of hepatology, 2016, Vol.64 (2), p.S298-S299

2016

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

Acta Paediatrica, 2012-01, Vol.101 (1), p.e42-e47

2012

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Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

Clinical genetics, 2005-07, Vol.68 (1), p.48-54

2005

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

Journal of inherited metabolic disease, 2018-05, p.1-11

2018

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

Medical hypotheses, 2004-01, Vol.62 (6), p.986-992

2004

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Management of neuronopathic Gaucher disease: Revised recommendations

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.660-664

2009

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Enzyme replacement therapy in type III Gaucher disease

Journal of inherited metabolic disease, 1999-04, Vol.22 (2), p.203-204

1999

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Decreasing serum VLCFA levels in ageing X‐ALD female carriers

Journal of inherited metabolic disease, 2001-12, Vol.24 (8), p.851-857

2001

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

Journal of inherited metabolic disease, 2008-06, Vol.31 (3), p.319-336

2008

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How can we treat lysosomal disorders?

European journal of paediatric neurology, 2008, Vol.12, p.S24-S24

Tylki-Szymańska, A

2008

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

Clinical genetics, 2011-11, Vol.80 (5), p.459-465

2011

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Metachromatic leukodystrophy – a neurometabolic disorder of sulfatide metabolism

European journal of paediatric neurology, 2008, Vol.12, p.S14-S15

2008

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Adrenoleukodystrophy (X-ALD) – changes in serum VLCFA profile and clinical course of patients following bone marrow transplantation and administration of Lorenzo oil

European journal of paediatric neurology, 2008, Vol.12, p.S73-S74

2008

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Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.1015-1024

2013

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Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS)

Molecular genetics and metabolism, 2011-06, Vol.103 (2), p.113-120

2011

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

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.935-942

2007

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Very long-chain fatty acids in Rett syndrome

European journal of pediatrics, 1999-03, Vol.158 (3), p.226-229

1999

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Audiological and radiological study of eight polish patients with alpha-mannosidosis

Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise

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

The Impact of a Ketogenic Diet and Liver Dysfunction on Serum Very Long-Chain Fatty Acids Levels

Non-neuronopathic Gaucher disease due to saposin C deficiency

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

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

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

Benefit of Sebelipase Alfa in Children and Adults with Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy by Baseline Alanine Aminotransferase Level

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

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

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

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

Management of neuronopathic Gaucher disease: Revised recommendations

Enzyme replacement therapy in type III Gaucher disease

Decreasing serum VLCFA levels in ageing X‐ALD female carriers

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

How can we treat lysosomal disorders?

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

Metachromatic leukodystrophy – a neurometabolic disorder of sulfatide metabolism

Adrenoleukodystrophy (X-ALD) – changes in serum VLCFA profile and clinical course of patients following bone marrow transplantation and administration of Lorenzo oil

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS)

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

Very long-chain fatty acids in Rett syndrome

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