about
Late form of Pompe disease with glycogen storage in peripheral nerves axons.Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.Neutrophils as a Source of Chitinases and Chitinase-Like Proteins in Type 2 DiabetesEvaluation of photodegradation, phototoxicity and photogenotoxicity of ofloxacin in ointments with sunscreens and in solutions.Diagnostic and therapeutic management of children with lysosomal acid lipase deficiency (LAL-D). Review of the literature and own experience.Prevalence rates of mucopolysaccharidoses in Poland.Association of adiponectin, leptin and resistin with inflammatory markers and obesity in dementia.Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy).Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options.Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity.GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.Newborn presentation of Niemann-Pick disease type C - Difficulties and limitations of diagnostic methods.Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease.Monitoring of dipeptidyl peptidase-IV (DPP-IV) activity in patients with mucopolysaccharidoses types I and II on enzyme replacement therapy - Results of a pilot study.Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.Non-neuronopathic Gaucher disease due to saposin C deficiency.Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-upGene expression profile in patients with Gaucher disease indicates activation of inflammatory processesGaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapyPlasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insightEnzymatic replacement therapy in patients with late-onset Pompe disease - 6-Year follow upElevated LysoGb3 Concentration in the Neuronopathic Forms of MucopolysaccharidosesChanges 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 diseaseLaboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism
P50
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P50
description
Polish molecular biologist and geneticist
@en
Pools onderzoekster
@nl
polska biolog molekularna i genetyk
@pl
name
Agnieszka Ługowska
@ast
Agnieszka Ługowska
@ca
Agnieszka Ługowska
@de
Agnieszka Ługowska
@en
Agnieszka Ługowska
@es
Agnieszka Ługowska
@fr
Agnieszka Ługowska
@ga
Agnieszka Ługowska
@gl
Agnieszka Ługowska
@it
Agnieszka Ługowska
@nl
type
label
Agnieszka Ługowska
@ast
Agnieszka Ługowska
@ca
Agnieszka Ługowska
@de
Agnieszka Ługowska
@en
Agnieszka Ługowska
@es
Agnieszka Ługowska
@fr
Agnieszka Ługowska
@ga
Agnieszka Ługowska
@gl
Agnieszka Ługowska
@it
Agnieszka Ługowska
@nl
altLabel
Agnieszka Lugowska
@en
prefLabel
Agnieszka Ługowska
@ast
Agnieszka Ługowska
@ca
Agnieszka Ługowska
@de
Agnieszka Ługowska
@en
Agnieszka Ługowska
@es
Agnieszka Ługowska
@fr
Agnieszka Ługowska
@ga
Agnieszka Ługowska
@gl
Agnieszka Ługowska
@it
Agnieszka Ługowska
@nl
P106
P1412
P1559
Agnieszka Ługowska
@pl
P21
P27
P31
P3124
P496
0000-0002-2848-6407