Publications by authors named "Anna Tylki-Szymanska"

100Publications

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.

Orphanet J Rare Dis 2020 09 29;15(1):271. Epub 2020 Sep 29.

International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1186/s13023-020-01549-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525940PMC
September 2020

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

Diagnostics (Basel) 2020 Sep 23;10(10). Epub 2020 Sep 23.

Department of Pediatrics, Nutrition and Metabolic Disorders, Children's Memorial Health Institute, 04-730 Warsaw, Poland.

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http://dx.doi.org/10.3390/diagnostics10100738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598207PMC
September 2020

A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism.

Int J Mol Sci 2020 Jul 12;21(14). Epub 2020 Jul 12.

Department of Systems Biology and Engineering, Silesian University of Technology, 44-100 Gliwice, Poland.

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http://dx.doi.org/10.3390/ijms21144913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7404199PMC
July 2020

Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.

Acta Biochim Pol 2020 May;67(2):225-228

Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.18388/abp.2020_5202DOI Listing
May 2020

Liver involvement in NGLY1 congenital disorder of deglycosylation.

Pol J Pathol 2020 ;71(1):66-68

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.5114/pjp.2020.92994DOI Listing
September 2020

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

Diagnostics (Basel) 2020 May 13;10(5). Epub 2020 May 13.

Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730 Warsaw, Poland.

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http://dx.doi.org/10.3390/diagnostics10050297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277974PMC
May 2020

ATP6AP1-CDG: Follow-up and female phenotype.

JIMD Rep 2020 May 9;53(1):80-82. Epub 2020 Apr 9.

Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.

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http://dx.doi.org/10.1002/jmd2.12104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203642PMC
May 2020

Progressive macrophage accumulation in lysosomal acid lipase deficiency.

Mol Genet Metab Rep 2020 Jun 1;23:100594. Epub 2020 May 1.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201182PMC
June 2020

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

Mol Genet Metab Rep 2020 Jun 8;23:100586. Epub 2020 Apr 8.

Centre for Inherited Metabolic Diseases, Department of Paediatrics and Department of Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7149402PMC
June 2020

Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses.

Diagnostics (Basel) 2020 Mar 13;10(3). Epub 2020 Mar 13.

Federal State Budgetary Institution, Research Centre for Medical Genetics, 115478 Moscow, Russia.

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http://dx.doi.org/10.3390/diagnostics10030155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151490PMC
March 2020

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

Diagnostics (Basel) 2020 Feb 20;10(2). Epub 2020 Feb 20.

Department of Paediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730Warsaw, Poland.

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http://dx.doi.org/10.3390/diagnostics10020116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7168320PMC
February 2020

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

JIMD Rep 2020 Jan 30;51(1):82-88. Epub 2020 Jan 30.

Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.

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http://dx.doi.org/10.1002/jmd2.12086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012742PMC
January 2020

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

Clin Respir J 2020 May 22;14(5):422-429. Epub 2020 Jan 22.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1111/crj.13150DOI Listing
May 2020

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

Mol Genet Metab 2020 02 1;129(2):125-131. Epub 2019 Nov 1.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.10.013DOI Listing
February 2020

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

J Appl Genet 2020 Feb 18;61(1):87-91. Epub 2019 Oct 18.

Department of Pediatrics, Nutrition and Metabolic Disease, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-019-00523-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6968987PMC
February 2020

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

Mol Genet Metab 2019 05 3;127(1):86-94. Epub 2019 Apr 3.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center "Sphinx", Academic Medical Center, University Hospital of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2019.03.010DOI Listing
May 2019

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

J Appl Genet 2019 May 30;60(2):163-174. Epub 2019 Mar 30.

Department of Paediatric, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-019-00491-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483970PMC
May 2019

The importance of anthropological methods in the diagnosis of rare diseases.

J Pediatr Endocrinol Metab 2019 Apr;32(4):311-320

Department of Pediatric, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1515/jpem-2018-0433DOI Listing
April 2019

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

Orphanet J Rare Dis 2019 02 22;14(1):55. Epub 2019 Feb 22.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1186/s13023-019-1029-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387484PMC
February 2019

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

Orphanet J Rare Dis 2018 10 26;13(1):189. Epub 2018 Oct 26.

Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute in Warsaw, Warsaw, Poland.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0932-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204008PMC
October 2018

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

Acta Paediatr 2018 12 23;107(12):2059-2065. Epub 2018 Oct 23.

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General Faculty Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1111/apa.14587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282980PMC
December 2018

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

Dev Period Med 2018;22(2):187-196

Klinika Pediatrii, Żywienia i Chorób Metabolicznych, Instytut ,, Pomnik-Centrum Zdrowia Dziecka'', Warszawa, Polska.

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September 2019

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

J Pediatr Gastroenterol Nutr 2018 10;67(4):452-457

Department of Pediatrics, Nutritional and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1097/MPG.0000000000002084DOI Listing
October 2018

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.

Mol Genet Metab 2019 03 26;126(3):212-223. Epub 2018 Apr 26.

French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France.

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http://dx.doi.org/10.1016/j.ymgme.2018.04.007DOI Listing
March 2019

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

Clin Res Hepatol Gastroenterol 2018 10 26;42(5):e77-e82. Epub 2018 Apr 26.

Department of Gastroenterology, Hepatology, Nutritional Disorders and Paediatrics, Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.clinre.2018.03.012DOI Listing
October 2018

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.

JIMD Rep 2018 3;42:79-87. Epub 2018 Jan 3.

Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1007/8904_2017_83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226391PMC
January 2018

Voice alterations in patients with Morquio A syndrome.

J Appl Genet 2018 Feb 23;59(1):73-80. Epub 2017 Dec 23.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-017-0421-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799315PMC
February 2018

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

Pediatr Neonatol 2018 06 12;59(3):317-318. Epub 2017 Oct 12.

Department of Pediatrics, Nutritional and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.pedneo.2017.09.003DOI Listing
June 2018

Female Fabry disease patients and X-chromosome inactivation.

Gene 2018 Jan 25;641:259-264. Epub 2017 Oct 25.

Department of Molecular Biology, Faculty of Biology, University of Gdańsk, Wita Stwosza 59, 80-308 Gdańsk, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2017.10.064DOI Listing
January 2018

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

J Appl Genet 2017 Nov 18;58(4):475-480. Epub 2017 Oct 18.

Department of Pediatric, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Dzieci Polskich 20, 04-730, Warsaw, Poland.

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http://dx.doi.org/10.1007/s13353-017-0414-5DOI Listing
November 2017

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

Orphanet J Rare Dis 2016 07 15;11(1):99. Epub 2016 Jul 15.

Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1186/s13023-016-0480-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946183PMC
July 2016

Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype.

Mol Genet Metab Rep 2015 Jun 28;3:11-7. Epub 2015 Feb 28.

Systems Engineering Group, Faculty of Automatic Control, Electronics and Informatics, Silesian University of Technology, Gliwice, Poland.

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http://dx.doi.org/10.1016/j.ymgmr.2015.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750576PMC
June 2015

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

Arch Biochem Biophys 2016 Mar 8;593:50-9. Epub 2016 Feb 8.

Department of Biochemistry, Nencki Institute of Experimental Biology, Polish Academy of Sciences, 3 Pasteur Street, PL-02093, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.abb.2016.02.012DOI Listing
March 2016

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

Pediatr Neonatol 2016 06 30;57(3):181-7. Epub 2015 Sep 30.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.pedneo.2015.04.015DOI Listing
June 2016

Tyrosinemia type III in an asymptomatic girl.

Mol Genet Metab Rep 2015 Dec 22;5:48-50. Epub 2015 Oct 22.

Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ymgmr.2015.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471395PMC
December 2015

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

Mol Genet Metab Rep 2015 Dec 6;5:33-35. Epub 2015 Oct 6.

Department of Pediatrics, Nutrition and Metabolic Disorders, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ymgmr.2015.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471405PMC
December 2015

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

JIMD Rep 2016 8;26:45-51. Epub 2015 Aug 8.

Department of Pediatric, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland.

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http://dx.doi.org/10.1007/8904_2015_473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864712PMC
May 2016

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

Magn Reson Med 2016 Apr 20;75(4):1781-6. Epub 2015 May 20.

Center for Neurosciences and Cell Biology, University of Coimbra, Portugal.

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http://dx.doi.org/10.1002/mrm.25749DOI Listing
April 2016

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

PLoS One 2015 29;10(4):e0123792. Epub 2015 Apr 29.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0123792PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414504PMC
January 2016

Cervical spine MRI findings in patients with Mucopolysaccharidosis type II.

Pediatr Neurosurg 2015 25;50(1):26-30. Epub 2015 Feb 25.

Department of Pediatrics, St. Louis Regional Children's Hospital, Cracow, Poland.

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http://dx.doi.org/10.1159/000371658DOI Listing
January 2016

Prevalence rates of mucopolysaccharidoses in Poland.

J Appl Genet 2015 May 4;56(2):205-10. Epub 2014 Dec 4.

Department of Genetics, University of Gdańsk, ul. Wita Stwosza 59, 80-308, Gdańsk, Poland,

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http://dx.doi.org/10.1007/s13353-014-0262-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412687PMC
May 2015

Growth patterns in children with mucopolysaccharidosis I and II.

World J Pediatr 2015 Aug 20;11(3):226-31. Epub 2014 Nov 20.

Anthropology Laboratory, the Children's Memorial Health Institute, Warsaw, Poland,

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http://www.wjpch.com/UploadFile/005%2013-380.pdf
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http://link.springer.com/10.1007/s12519-014-0517-6
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http://dx.doi.org/10.1007/s12519-014-0517-6DOI Listing
August 2015

Mucopolysaccharidosis type II, Hunter's syndrome.

Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:107-13

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September 2014

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 ;52(2):159-63

Teresa J. Stradomska, Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland, fax: +48 22 815 13 13, e-mail:

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http://dx.doi.org/10.5114/fn.2014.43787DOI Listing
April 2015

Adenylosuccinate lyase deficiency.

J Inherit Metab Dis 2015 Mar 12;38(2):231-42. Epub 2014 Aug 12.

Department of Genetics, University of Gdańsk, ul. Wita Stwosza 59, 80-308, Gdańsk, Poland,

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http://dx.doi.org/10.1007/s10545-014-9755-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4341013PMC
March 2015

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

Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2014 ;35(1):99-106

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

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http://manu.edu.mk/prilozi/4at.pdf
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March 2016

Clinical and molecular characteristics of two transaldolase-deficient patients.

Eur J Pediatr 2014 Dec 5;173(12):1679-82. Epub 2014 Feb 5.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland,

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http://dx.doi.org/10.1007/s00431-014-2261-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245499PMC
December 2014

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

Neuropediatrics 2014 Jun 9;45(3):188-91. Epub 2014 Jan 9.

Center of Oncology Institute M. Curie-Skłodowska, Gliwice, Poland.

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http://dx.doi.org/10.1055/s-0033-1364105DOI Listing
June 2014

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

Pediatr Int 2014 Aug 1;56(4):520-5. Epub 2014 Apr 1.

Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland; Department of Genetics, University of Gdańsk, Gdańsk, Poland.

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http://dx.doi.org/10.1111/ped.12281DOI Listing
August 2014

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.

Clin Rheumatol 2014 May 13;33(5):725-31. Epub 2013 Nov 13.

Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland,

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http://dx.doi.org/10.1007/s10067-013-2423-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000421PMC
May 2014

Gynecomastia in MPS IIIA boys: related to treatment or precocious puberty?

Mol Genet Metab 2014 Feb 16;111(2):61-2. Epub 2013 Oct 16.

Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.008DOI Listing
February 2014

Effect of rapid cessation of enzyme replacement therapy: a report of 5 more cases.

Mol Genet Metab 2014 Feb 6;111(2):212-3. Epub 2013 Sep 6.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.08.019DOI Listing
February 2014

Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

Neuropediatrics 2014 Feb 16;45(1):50-5. Epub 2013 Mar 16.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1055/s-0033-1337335DOI Listing
February 2014

Gastroenterological complications of Anderson-Fabry disease.

Curr Pharm Des 2013 ;19(33):6009-13

The Children's Memorial Health Institute, Department of Pediatrics, 04-730 Al. Dzieci Polskich, Warsaw, Poland.

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http://dx.doi.org/10.2174/13816128113199990347DOI Listing
April 2014

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

Mol Biosyst 2013 Apr;9(4):668-76

Department of Biochemistry, Nencki Institute of Experimental Biology, 3 Pasteur Street, 02-093 Warsaw, Poland.

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http://dx.doi.org/10.1039/c3mb25487aDOI Listing
April 2013

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

Pediatr Neurosurg 2012 21;48(3):191-8. Epub 2012 Dec 21.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1159/000345635DOI Listing
September 2013

Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature.

Mol Genet Metab 2012 Nov 17;107(3):508-12. Epub 2012 Aug 17.

Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.ymgme.2012.08.013DOI Listing
November 2012

Mucopolysaccharidosis type VI: a cardiologist's guide to diagnosis and treatment.

Int J Cardiol 2013 Jul 16;167(1):1-10. Epub 2012 Jun 16.

Department of Cardiology, Gliwice General Hospital, Gliwice, Poland.

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http://dx.doi.org/10.1016/j.ijcard.2012.05.115DOI Listing
July 2013

Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.

Mol Genet Metab 2012 Aug 14;106(4):395-402. Epub 2012 May 14.

Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2012.05.003DOI Listing
August 2012

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

Br J Haematol 2012 Aug 29;158(4):528-38. Epub 2012 May 29.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-2141.2012.09175.xDOI Listing
August 2012

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

Gene 2012 Aug 22;504(2):292-5. Epub 2012 May 22.

Laboratory of Electron Microscopy, University of Gdańsk, Kładki 24, Gdańsk, Poland.

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http://dx.doi.org/10.1016/j.gene.2012.05.006DOI Listing
August 2012

Nephrological abnormalities in patients with transaldolase deficiency.

Nephrol Dial Transplant 2012 Aug 17;27(8):3224-7. Epub 2012 Apr 17.

Department of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/ndt/gfs061DOI Listing
August 2012

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

Mol Biosyst 2012 Apr 27;8(4):1197-205. Epub 2012 Jan 27.

Department of Biochemistry, Nencki Institute of Experimental Biology, Polish Academy of Sciences, PL-02093 Warsaw, Poland.

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http://dx.doi.org/10.1039/c2mb05447gDOI Listing
April 2012

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

Am J Med Genet A 2012 Feb 13;158A(2):450-4. Epub 2012 Jan 13.

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Polandd.

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http://dx.doi.org/10.1002/ajmg.a.34415DOI Listing
February 2012

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

J Child Neurol 2012 May 2;27(5):645-9. Epub 2011 Dec 2.

Metabolic Diseases Clinic, the Children's Memorial Health Institute, Warsaw, Poland.

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http://dx.doi.org/10.1177/0883073811424465DOI Listing
May 2012

Gaucher's disease in Lithuania: its diagnosis and treatment.

Medicina (Kaunas) 2011 ;47(7):405-11

Center of Oncohematology, Vilnius University Children's Hospital, Lithuania.

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February 2012