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

Acta Paediatrica, 2013-05, Vol.102 (5), p.462-470

2013

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Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

Journal of inherited metabolic disease, 2021-11, Vol.44 (6), p.1463-1480

2021

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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, 2019-01, Vol.42 (1), p.147-158

2019

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

Acta Paediatrica, 2018-12, Vol.107 (12), p.2059-2065

2018

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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

Journal of cellular biochemistry, 2019-04, Vol.120 (4), p.6580-6588

2019

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

Journal of inherited metabolic disease, 2010-08, Vol.33 (4), p.339-346

2010

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

Acta Paediatrica, 2018-08, Vol.107 (8), p.1402-1408

2018

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ATP6AP1‐CDG: Follow‐up and female phenotype

JIMD reports, 2020-05, Vol.53 (1), p.80-82

2020

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

American journal of medical genetics. Part A, 2011-09, Vol.155 (9), p.2257-2262

2011

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

British journal of haematology, 2012-08, Vol.158 (4), p.528-538

2012

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Efficacy of Enzyme Replacement Therapy on the range of motion of the upper and lower extremities in 16 Polish patients with mucopolysaccharidosis type II: A long-term follow-up study

Acta biochimica polonica, 2022-02

2022

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

Pediatrics international, 2014-08, Vol.56 (4), p.520-525

2014

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European expert consensus statement on therapeutic goals in Fabry disease

Molecular genetics and metabolism, 2018-07, Vol.124 (3), p.189-203

2018

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Mucopolysaccharidosis type II, Hunter's syndrome

Pediatric endocrinology reviews : PER, 2014-09, Vol.12 Suppl 1, p.107

Tylki-Szymańska, Anna

2014

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

Acta Paediatrica, 2012-04, Vol.101 (4), p.e183-e188

2012

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

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1291-1299

2013

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Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders

PloS one, 2020-09, Vol.15 (9), p.e0238796-e0238796

2020

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

Archives of biochemistry and biophysics, 2016-03, Vol.593, p.50-59

2016

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Voice alterations in patients with Morquio A syndrome

Journal of applied genetics, 2018-02, Vol.59 (1), p.73-80

2018

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Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult

Acta biochimica Polonica, 2021-09, Vol.68 (4), p.791

2021

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

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.125-131

2020

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

Acta Paediatrica, 2009-04, Vol.98 (4), p.743-749

2009

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Mucopolysaccharidosis type II in females and response to enzyme replacement therapy

American journal of medical genetics. Part A, 2012-02, Vol.158A (2), p.450-454

2012

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

Journal of medical genetics, 2015-05, Vol.52 (5), p.312-316

2015

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

Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

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

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

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

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

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

ATP6AP1‐CDG: Follow‐up and female phenotype

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

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

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

Efficacy of Enzyme Replacement Therapy on the range of motion of the upper and lower extremities in 16 Polish patients with mucopolysaccharidosis type II: A long-term follow-up study

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

European expert consensus statement on therapeutic goals in Fabry disease

Mucopolysaccharidosis type II, Hunter's syndrome

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

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

Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders

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

Voice alterations in patients with Morquio A syndrome

Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult

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

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

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy

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

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