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

Clinical genetics, 2002-05, Vol.61 (5), p.389-390

2002

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

Molecular genetics and metabolism, 2019-04, Vol.126 (4), p.470-474

2019

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d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.329-332

2008

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

Neuroradiology, 2001-11, Vol.43 (11), p.951-952

2001

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Management of neuronopathic Gaucher disease: A European consensus

Journal of inherited metabolic disease, 2001-06, Vol.24 (3), p.319-327

2001

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

Human molecular genetics, 2010-08, Vol.19 (15), p.2987-2997

2010

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Diagnostic difficulties in patients with attenuated form of MPS VI

Pediatric rheumatology online journal, 2011-09, Vol.9 (S1), p.P29-P29, Article P29

2011

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PO-0096 Clinical Effectiveness Of Idursulfase In Boys Aged 0–5 Years With Hunter Syndrome: 3-year Data From The Hunter Outcome Survey

Archives of disease in childhood, 2014-10, Vol.99 (Suppl 2), p.A280-A281

2014

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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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Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.447-451

2008

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

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

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

Management of neuronopathic Gaucher disease: Revised recommendations

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

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

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

Non-neuronopathic Gaucher disease due to saposin C deficiency

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

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

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

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

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

d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect

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

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

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

Management of neuronopathic Gaucher disease: A European consensus

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

Diagnostic difficulties in patients with attenuated form of MPS VI

PO-0096 Clinical Effectiveness Of Idursulfase In Boys Aged 0–5 Years With Hunter Syndrome: 3-year Data From The Hunter Outcome Survey

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

Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland

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