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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
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- Publication type:
- journal article
Editorial: Prevention, diagnosis and treatment of rare disorders.
- Published in:
- 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.
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- 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.
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- 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.
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- 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
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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
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
- Published in:
- 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
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
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.
- Published in:
- 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
Schimke immuno-osseous dysplasia: two cases.
- Published in:
- 2003
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- 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
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- 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
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- 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
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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.
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- Metabolic Brain Disease, 2019, v. 34, n. 2, p. 641, doi. 10.1007/s11011-018-0357-5
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- Publication type:
- Article
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
- Published in:
- 2019
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- 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
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
- Published in:
- 2017
- By:
- Publication type:
- journal 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.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 21, p. 4890, doi. 10.3390/jcm10214890
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- Publication type:
- Article
Congenital Disorders of Glycosylation from a Neurological Perspective.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 88, doi. 10.3390/brainsci11010088
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- Publication type:
- Article
Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 4, p. 644, doi. 10.3390/biom13040644
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- Publication type:
- Article
A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients—A Qualitative and Quantitative Approach.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 436, doi. 10.3390/biom13030436
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- Publication type:
- Article
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 3, p. 398, doi. 10.3390/biom12030398
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- Publication type:
- Article
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 846, doi. 10.1038/sj.ejhg.5201623
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- Publication type:
- Article
The importance of anthropological methods in the diagnosis of rare diseases.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 4, p. 311, doi. 10.1515/jpem-2018-0433
- By:
- Publication type:
- Article
Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state‐of‐the art review.
- Published in:
- Clinical Respiratory Journal, 2020, v. 14, n. 5, p. 422, doi. 10.1111/crj.13150
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- Publication type:
- Article
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.
- Published in:
- Clinical Rheumatology, 2014, v. 33, n. 5, p. 725, doi. 10.1007/s10067-013-2423-z
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- Publication type:
- Article
ATP6AP1‐CDG: Follow‐up and female phenotype.
- Published in:
- 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
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
- Published in:
- 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
Enzyme Replacement Therapy for Fabry Disease.
- Published in:
- Drugs, 2009, v. 69, n. 16, p. 2179, doi. 10.2165/11318300-000000000-00000
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- Publication type:
- 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).
- Published in:
- American Journal of Case Reports, 2020, v. 21, p. 1, doi. 10.12659/AJCR.923394
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- Publication type:
- Article
Treatment trials in Niemann-Pick type C disease.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 8, p. 2215, doi. 10.1007/s11011-021-00842-0
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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.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 7, p. 2169, doi. 10.1007/s11011-021-00827-z
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- Publication type:
- Article
Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.
- Published in:
- 2022
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- Publication type:
- journal article
Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries.
- Published in:
- 2022
- By:
- Publication type:
- journal article