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International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update.
- Published in:
- Advances in Clinical & Experimental Medicine, 2024, v. 33, n. 10, p. 1163, doi. 10.17219/acem/193696
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- Publication type:
- Article
Hypopituitarism—A rare manifestation in Joubert syndrome: about 4 cases.
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- AIMS Medical Science, 2024, v. 11, n. 3, p. 1, doi. 10.3934/medsci.2024022
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- Publication type:
- Article
Comparison of the antioxidant potential of some herbal teas produced from ecological and traditional crops.
- Published in:
- Acta Universitatis Lodziensis Folia Biologica et Oecologica, 2021, v. 17, p. 97, doi. 10.18778/1730-2366.16.20
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- Publication type:
- Article
Editorial: Prevention, diagnosis and treatment of rare disorders.
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- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.1026064
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- Publication type:
- Article
Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses.
- Published in:
- 2008
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- Publication type:
- journal article
The prevalence and diagnosis of lysosomal storage diseases in Poland.
- Published in:
- 2001
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- Publication type:
- Letter
Clinical, biochemical and molecular findings in a two-generation Morquio A family.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 5, p. 369, doi. 10.1111/j.1399-0004.1998.tb02747.x
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- Publication type:
- Article
A further report of Brachmann-de Lange syndrome in two sibs with normal parents.
- Published in:
- Clinical Genetics, 1995, v. 47, n. 6, p. 324, doi. 10.1111/j.1399-0004.1995.tb03974.x
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- Publication type:
- Article
DEFICYT AKTYWNOŚCI TRANSALDOLAZY -- OBRAZ KLINICZNY, PATOGENEZA, DIAGNOSTYKA.
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- Developmental Period Medicine, 2018, v. 22, n. 2, p. 187
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- Publication type:
- Article
DIAGNOSTYKA I POSTĘPOWANIE TERAPEUTYCZNE U DZIECI Z MUKOPOLISACHARYDOZĄ TYPU VI.
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- Przeglad Pediatryczny, 2012, v. 42, n. 3, p. 149
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- Publication type:
- Article
DEFICYT FOSFORYBOZYLOTRANSFERAZY HIPOKSANTYNOGUANINOWEJ - KLINICZNA, BIOCHEMICZNA ORAZ MOLEKULARNA CHARAKTERYSTYKA PACJENTÓW.
- Published in:
- Przeglad Pediatryczny, 2008, v. 38, n. 3, p. 227
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- Publication type:
- Article
Rozwój funkcji poznawczych u dzieci z mukopolisacharydozą typu I (choroba Hurler) leczonych enzymatycznie laronidazą.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2010, v. 16, n. 4, p. 249
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- Publication type:
- Article
Analiza radiogramów kości ręki metodą densytometryczną w ocenie wczesnych zmian w strukturze kości u dzieci z chorobą Gauchera leczonych enzymatycznie.
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2007, v. 13, n. 4, p. 218
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- Publication type:
- Article
Analiza radiogramów kości ręki metodą densytometryaną w ocenie wczesnych zmian w strukturze kości u dzieci z chorobą Gauchera Ieczonych enzymatycznie.
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2007, v. 13, n. 3, p. 159
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- Publication type:
- Article
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
- Published in:
- 2017
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- Publication type:
- journal article
Analysis of voice quality in patients with late-onset Pompe disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Invasive growth patterns of juvenile nasopharyngeal angiofibroma: radiological imaging and clinical implications.
- Published in:
- 2014
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- Publication type:
- journal article
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11424, doi. 10.3390/ijms231911424
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- Publication type:
- Article
A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 4913, doi. 10.3390/ijms21144913
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- Publication type:
- Article
THE PILOT STUDY ON VIEWING TIMES OF ARTWORKS AND LABELS AND ASSESSMENT OF ARTWORKS IN A GALLERY DEPENDING ON THE ABSTRACTNESS OF A PIECE OF ART.
- Published in:
- Polskie Forum Psychologiczne, 2021, v. 26, n. 4, p. 451, doi. 10.34767/PFP.2021.04.06
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- Publication type:
- Article
The Relationship between Selected CNR1, MC4R, LEP, FTO and VDR Gene Polymorphisms and Several Basic Toxicological Parameters Among Persons Occupationally Exposed to Arsenic, Cadmium and Lead.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 1040, doi. 10.3390/jcm9041040
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- Publication type:
- Article
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
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- Pediatrics International, 2014, v. 56, n. 4, p. 520, doi. 10.1111/ped.12281
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- Publication type:
- Article
Type III D mucopolysaccharidosis (Sanfilippo D): Clinical course and symptoms.
- Published in:
- Pediatrics International, 1998, v. 40, n. 5, p. 492, doi. 10.1111/j.1442-200X.1998.tb01977.x
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- Publication type:
- Article
Clinical, biochemical and histological analysis of seven patients with cholesteryl ester storage disease.
- Published in:
- Pediatrics International, 1997, v. 39, n. 6, p. 643, doi. 10.1111/j.1442-200X.1997.tb03660.x
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- Publication type:
- Article
The impact of systemic psoriasis treatments on human papillomavirus activation and propagation.
- Published in:
- Australasian Journal of Dermatology, 2022, v. 63, n. 3, p. 293, doi. 10.1111/ajd.13865
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- Publication type:
- Article
Molecular bases of metachromatic leukodystrophy in Polish patients.
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- Journal of Human Genetics, 2010, v. 55, n. 6, p. 394, doi. 10.1038/jhg.2010.25
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- Publication type:
- Article
The Effect of Educational Workshops in an Art Gallery on Children's Evaluation and Interpretation of Contemporary Art.
- Published in:
- Empirical Studies of the Arts, 2020, v. 38, n. 2, p. 135, doi. 10.1177/0276237418790917
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- Publication type:
- Article
The Anti-Acne Effect of Near-Infrared Low-Level Laser Therapy.
- Published in:
- Clinical, Cosmetic & Investigational Dermatology, 2021, v. 14, p. 1045, doi. 10.2147/CCID.S323132
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- Publication type:
- Article
Assessment of adherence to medication for cardiovascular diseases: measurement tools.
- Published in:
- Cardiovascular Journal of Africa, 2019, v. 30, n. 2, p. 113, doi. 10.5830/CVJA-2018-050
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- Publication type:
- Article
Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene Mucopolysaccharidosis Type VI: A Predominantly Cardiac Phenotype Associated With Homozygosity for p.R152W Mutation in the ARSB Gene
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1291, doi. 10.1002/ajmg.a.35905
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- Publication type:
- Article
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 450, doi. 10.1002/ajmg.a.34415
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- Publication type:
- Article
Gaucher disease diagnosed after bone marrow trephine biopsy - a report of two cases.
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- Folia Histochemica et Cytobiologica, 2011, v. 49, n. 2, p. 352, doi. 10.5603/FHC.2011.0048
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- Publication type:
- Article
Risk factors for thrombosis and spontaneous echocardiographic contrast with sludge in atrial fibrillation patients treated with oral anticoagulants before electrical cardioversion.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2024, v. 82, n. 5, p. 516, doi. 10.33963/v.phj.100078
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- Publication type:
- Article
Can transesophageal echocardiography be safely omitted in patients scheduled for elective ablation of atrial arrhythmias? Data based on the LATTEE registry.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2024, v. 82, n. 5, p. 492, doi. 10.33963/v.phj.100081
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- Publication type:
- Article
The rationale and design of the LATTEE registry – the first multicenter project on the Scientific Platform of the “Club 30” of the Polish Cardiac Society.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2019, v. 77, n. 11, p. 1078, doi. 10.33963/KP.15011
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- Publication type:
- Article
Surgical closure of patent ductus arteriosus in extremely low birth weight infants weighing less than 750 grams.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2018, v. 76, n. 4, p. 750, doi. 10.5603/KP.2018.0009
- By:
- Publication type:
- Article
A study to evaluate the prevalence and determinants of stress coping strategies in heart failure patients in Poland (CAPS-LOCK-HF sub-study).
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2016, v. 74, n. 11, p. 1327, doi. 10.5603/KP.a2016.0109
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- Publication type:
- Article
Perception of health control and self-efficacy in heart failure.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2016, v. 74, n. 2, p. 168, doi. 10.5603/KP.a2015.0137
- By:
- Publication type:
- Article
Concentration of Thyrotropic Hormone in Persons Occupationally Exposed to Lead, Cadmium and Arsenic.
- Published in:
- Biological Trace Element Research, 2018, v. 182, n. 2, p. 196, doi. 10.1007/s12011-017-1096-x
- By:
- Publication type:
- Article
Schimke immuno-osseous dysplasia: two cases.
- Published in:
- 2003
- By:
- Publication type:
- journal article
LYSOSOMAL ACID LIPASE DEFICIENCY: WOLMAN DISEASE AND CHOLESTERYL ESTER STORAGE DISEASE.
- Published in:
- Contributions / Prilozi (1857-9345), 2014, v. 35, n. 1, p. 99
- By:
- Publication type:
- Article
Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0124987
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- Publication type:
- Article
Ultrasonographic Features of Hip Joints in Mucopolysaccharidoses Type I and II.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123792
- By:
- Publication type:
- Article
The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085074
- By:
- Publication type:
- Article
Artificial intelligence in detecting left atrial appendage thrombus by transthoracic echocardiography and clinical features: the Left Atrial Thrombus on Transoesophageal Echocardiography (LATTEE) registry.
- Published in:
- European Heart Journal, 2024, v. 45, n. 1, p. 32, doi. 10.1093/eurheartj/ehad431
- By:
- Publication type:
- Article
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 2, p. 641, doi. 10.1007/s11011-018-0357-5
- By:
- Publication type:
- Article
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Follow-up analysis of voice quality in patients with late-onset Pompe disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article