PubRank

Anna Tylki-Szymańska

Author PubWeight™ 33.80‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004 2.29
2 Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis 2011 1.67
3 Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet 2006 1.41
4 Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004 1.36
5 Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr 2013 1.22
6 Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs 2009 0.97
7 Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia. Mol Genet Metab 2011 0.96
8 Adenylosuccinate lyase deficiency. J Inherit Metab Dis 2014 0.95
9 Mucopolysaccharidosis type II, Hunter's syndrome. Pediatr Endocrinol Rev 2014 0.93
10 Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis. Acta Paediatr 2008 0.92
11 Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. Mol Genet Metab 2011 0.92
12 Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years. Br J Haematol 2012 0.88
13 Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT). Am J Med Genet A 2011 0.87
14 Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status. Acta Paediatr 2011 0.86
15 Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses. Eur J Pediatr 2007 0.85
16 Nephrological abnormalities in patients with transaldolase deficiency. Nephrol Dial Transplant 2012 0.83
17 Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment. Int J Cardiol 2012 0.82
18 Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene. Am J Med Genet A 2013 0.82
19 Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up. Pediatr Neurol 2012 0.82
20 Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe. Pediatr Int 2014 0.81
21 Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy. Am J Med Genet A 2007 0.80
22 Growth patterns in children with mucopolysaccharidosis I and II. World J Pediatr 2014 0.79
23 Late form of Pompe disease with glycogen storage in peripheral nerves axons. J Neurol Sci 2010 0.79
24 Biomarkers for the mucopolysaccharidoses: discovery and clinical utility. Mol Genet Metab 2012 0.79
25 Molecular bases of metachromatic leukodystrophy in Polish patients. J Hum Genet 2010 0.78
26 Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. Am J Med Genet A 2012 0.78
27 Prevalence rates of mucopolysaccharidoses in Poland. J Appl Genet 2014 0.78
28 Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature. Mol Genet Metab 2012 0.78
29 Monitoring of very long-chain fatty acids levels in X-linked adrenoleukodystrophy, treated with haematopoietic stem cell transplantation and Lorenzo's Oil. Folia Neuropathol 2014 0.77
30 Changes in hair morphology as a biomarker in gene expression-targeted isoflavone therapy for Sanfilippo disease. Gene 2012 0.77
31 Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland. Folia Neuropathol 2009 0.77
32 [Diagnostic problems in a 17-year-old patient with gastrointestinal manifestations of Fabry disease]. Med Wieku Rozwoj 2011 0.77
33 Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency. J Child Neurol 2011 0.76
34 Spinal cord compression in Maroteaux-Lamy syndrome: case report and review of the literature with effects of enzyme replacement therapy. Pediatr Neurosurg 2012 0.76
35 Gaucher disease diagnosed after bone marrow trephine biopsy - a report of two cases. Folia Histochem Cytobiol 2011 0.76
36 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. J Appl Genet 2005 0.75
37 Cervical spine MRI findings in patients with Mucopolysaccharidosis type II. Pediatr Neurosurg 2015 0.75
38 Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature. Clin Rheumatol 2013 0.75
39 [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)]. Pediatr Endocrinol Diabetes Metab 2007 0.75
40 [Lysosomal storage diseases--an overview]. Postepy Biochem 2011 0.75
41 [Annexins in Niemann-Pick type C disease]. Postepy Biochem 2007 0.75
42 [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)]. Pediatr Endocrinol Diabetes Metab 2007 0.75
43 A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient. Eur J Med Genet 2005 0.75
44 [The development of cognitive functions in children with Hurler phenotype mucopolysaccharidosis type I on enzyme replacement therapy with laronidase]. Pediatr Endocrinol Diabetes Metab 2010 0.75
45 Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy. Gene 2013 0.75
46 [Mucopolysaccharidoses--biochemical mechanisms of diseases and therapeutic possibilities]. Postepy Biochem 2011 0.75
47 [Gaucher disease--one of the possible causes of splenomegaly--case report]. Pol Arch Med Wewn 2004 0.75
48 [Pathogenesis of lipid storage diseases]. Postepy Biochem 2011 0.75