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Long- and Short-Term Glucosphingosine (lyso-Gb1) Dynamics in Gaucher Patients Undergoing Enzyme Replacement Therapy.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 7, p. 842, doi. 10.3390/biom14070842
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- Article
The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment.
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- Diagnostics (2075-4418), 2024, v. 14, n. 12, p. 1299, doi. 10.3390/diagnostics14121299
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- Article
Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland.
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- Biomedicines, 2023, v. 11, n. 6, p. 1668, doi. 10.3390/biomedicines11061668
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- Article
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.
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- Biomolecules (2218-273X), 2023, v. 13, n. 4, p. 644, doi. 10.3390/biom13040644
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- Article
Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.
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- Frontiers in Neurology, 2023, v. 14, p. 01, doi. 10.3389/fneur.2023.1098454
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- Article
A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients—A Qualitative and Quantitative Approach.
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- Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 436, doi. 10.3390/biom13030436
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- Article
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11424, doi. 10.3390/ijms231911424
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- 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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- Article
Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.
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- 2022
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- Publication type:
- journal article
Stosowanie farmakologicznych chaperonów w leczeniu wrodzonych chorób metabolicznych.
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- Advances in Biochemistry / Postepy Biochemii, 2022, v. 68, n. 3, p. 255, doi. 10.18388/pb.2021_451
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- Article
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries.
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- 2022
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- journal article
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
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- 2022
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- Publication type:
- journal article
Editorial: Inherited Protein Glycosylation Defects in Humans.
- Published in:
- 2022
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- Publication type:
- Editorial
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.
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- Biomolecules (2218-273X), 2022, v. 12, n. 3, p. 398, doi. 10.3390/biom12030398
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- Article
Two cases of neuronopathic form of Gaucher disease – diagnostic difficulties.
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- Acta Biochimica Polonica, 2022, v. 69, n. 1, p. 119, doi. 10.18388/abp.2020_5760
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- Publication type:
- Article
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.
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- Acta Biochimica Polonica, 2022, v. 69, n. 1, p. 251, doi. 10.18388/abp.2020_6071
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- Article
Treatment trials in Niemann-Pick type C disease.
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- Metabolic Brain Disease, 2021, v. 36, n. 8, p. 2215, doi. 10.1007/s11011-021-00842-0
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- Article
Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases.
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- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4890, doi. 10.3390/jcm10214890
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- Article
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.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1463, doi. 10.1002/jimd.12428
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- Article
Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult.
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- Acta Biochimica Polonica, 2021, v. 68, n. 4, p. 791, doi. 10.18388/abp.2020_5715
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- Publication type:
- Article
Anthropometric Phenotype of Patients with PMM2-CDG.
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- Children, 2021, v. 8, n. 10, p. 1, doi. 10.3390/children8100852
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- Publication type:
- Article
NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.
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- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 2169, doi. 10.1007/s11011-021-00827-z
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- Article
Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency.
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- Children, 2021, v. 8, n. 9, p. 1, doi. 10.3390/children8090746
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- Article
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
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- Diagnostics (2075-4418), 2021, v. 11, n. 8, p. 1438, doi. 10.3390/diagnostics11081438
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- Publication type:
- Article
Zaburzenie homeostazy lipidowej w deficycie lizosomalnej lipazy – patomechanizm, diagnostyka i leczenie.
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- Advances in Biochemistry / Postepy Biochemii, 2021, v. 67, n. 3, p. 231, doi. 10.18388/pb.2021_389
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- Article
Correction to: Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
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- 2021
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- Publication type:
- corrected article
The First Metabolome Analysis in Children with Epilepsy and ALG13-CDG Resulting from c.320A>G Variant.
- Published in:
- Children, 2021, v. 8, n. 3, p. 1, doi. 10.3390/children8030251
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- Publication type:
- Article
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
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- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 320, doi. 10.3390/diagnostics11020320
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- Publication type:
- Article
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.
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- 2021
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- Publication type:
- journal article
Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation.
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- Acta Biochimica Polonica, 2021, v. 68, n. 1, p. 139, doi. 10.18388/abp.2020_5576
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- Publication type:
- Article
Congenital Disorders of Glycosylation from a Neurological Perspective.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 88, doi. 10.3390/brainsci11010088
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- Article
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.
- Published in:
- 2020
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- Publication type:
- journal article
Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 738, doi. 10.3390/diagnostics10100738
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- Publication type:
- Article
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.
- Published in:
- 2020
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- Publication type:
- journal article
Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.
- Published in:
- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0238796
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- Article
Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B).
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- American Journal of Case Reports, 2020, v. 21, p. 1, doi. 10.12659/AJCR.923394
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- 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
Wrodzone zaburzenia glikozylacji białek - stale powiększająca się grupa chorób metabolicznych.
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- Advances in Biochemistry / Postepy Biochemii, 2020, v. 66, n. 3, p. 213, doi. 10.18388/pb.2020_345
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- Publication type:
- Article
Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state‐of‐the art review.
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- Clinical Respiratory Journal, 2020, v. 14, n. 5, p. 422, doi. 10.1111/crj.13150
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- Publication type:
- Article
Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience.
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- Diagnostics (2075-4418), 2020, v. 10, n. 5, p. 297, doi. 10.3390/diagnostics10050297
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- Publication type:
- Article
ATP6AP1‐CDG: Follow‐up and female phenotype.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 80, doi. 10.1002/jmd2.12104
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- Publication type:
- Article
Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.
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- Acta Biochimica Polonica, 2020, v. 67, n. 2, p. 225, doi. 10.18388/abp.2020_5202
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- Publication type:
- Article
Modeling Morquio A Syndrome: An Anthropometric Study of Body Characteristics and Stature.
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- Diagnostics (2075-4418), 2020, v. 10, n. 2, p. 116, doi. 10.3390/diagnostics10020116
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- Publication type:
- Article
Wrodzone zaburzenie deglikozylacji związane z deficytem N-glikanazy 1.
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- Advances in Biochemistry / Postepy Biochemii, 2020, v. 66, n. 1, p. 38, doi. 10.18388/pb.2020_306
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- Publication type:
- Article
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 82, doi. 10.1002/jmd2.12086
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- Publication type:
- Article
LIVER INVOLVEMENT IN NGLY1 CONGENITAL DISORDER OF DEGLYCOSYLATION.
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- Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists, 2020, v. 71, n. 1, p. 66, doi. 10.5114/pjp.2020.92994
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- Publication type:
- Article
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.
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- Journal of Cellular Biochemistry, 2019, v. 120, n. 4, p. 6580, doi. 10.1002/jcb.27951
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- Publication type:
- Article
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.
- Published in:
- Journal of Cellular Biochemistry, 2019, v. 120, n. 4, p. 6580, doi. 10.1002/jcb.27951
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- Publication type:
- Article
The importance of anthropological methods in the diagnosis of rare diseases.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 4, p. 311, doi. 10.1515/jpem-2018-0433
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- 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
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- Publication type:
- Article