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1.
Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease.
Metab Brain Dis
; 38(2): 709-715, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36576693
2.
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
Int J Mol Sci
; 23(19)2022 Sep 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-36232726
3.
Treatment trials in Niemann-Pick type C disease.
Metab Brain Dis
; 36(8): 2215-2221, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34596813
4.
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann-Pick C disease.
Neurogenetics
; 21(2): 105-119, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31927669
5.
Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.
Metab Brain Dis
; 34(5): 1253-1260, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31197681
6.
Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight.
Mol Genet Metab
; 123(4): 495-500, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29530534
7.
Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.
J Pediatr Gastroenterol Nutr
; 67(4): 452-457, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29958253
8.
Enzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow up.
Neurol Neurochir Pol
; 52(4): 465-469, 2018 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-29803406
9.
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.
Mol Genet Metab
; 121(3): 252-258, 2017 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-28566233
10.
Association of adiponectin, leptin and resistin with inflammatory markers and obesity in dementia.
Biogerontology
; 18(4): 561-580, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28421328
11.
Diagnostic and therapeutic management of children with lysosomal acid lipase deficiency (LAL-D). Review of the literature and own experience.
Dev Period Med
; 20(3): 212-215, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27941191
12.
Proteins from the 18 glycosyl hydrolase family are associated with kidney dysfunction in patients with diabetes type 2.
Biomarkers
; 20(1): 52-7, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25519006
13.
A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy.
Folia Neuropathol
; 62(1): 21-31, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38741434
14.
A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options.
Neurol Neurochir Pol
; 47(1): 86-9, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23487299
15.
A 20-Year Longitudinal Study of Plasma Chitotriosidase Activity in Treated Gaucher Disease Type 1 and 3 Patients-A Qualitative and Quantitative Approach.
Biomolecules
; 13(3)2023 02 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-36979371
16.
Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.
Mol Genet Metab
; 104(4): 627-30, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21978771
17.
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.
Life (Basel)
; 12(1)2021 Dec 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-35054396
18.
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Diagnostics (Basel)
; 11(2)2021 Feb 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-33669444
19.
Molecular bases of metachromatic leukodystrophy in Polish patients.
J Hum Genet
; 55(6): 394-6, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20339381
20.
Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses.
Diagnostics (Basel)
; 10(3)2020 Mar 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-32183018