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「"Mavridou I "[Author]」の検索結果

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Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Altering User Movement Behaviour in Virtual Environments.

The Spectrum of Niemann-Pick Type C Disease in Greece.

Investigation of original multivalent iminosugars as pharmacological chaperones for the treatment of Gaucher disease.

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

Selective chaperone effect of aminocyclitol derivatives on G202R and other mutant glucocerebrosidases causing Gaucher disease.

Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α-1-C-Substituted Imino-D-xylitols (DIXs) by Click Chemistry.

Galactosialidosis: review and analysis of CTSA gene mutations.

Niemann Pick Type C Disease: A Novel Npc Mutation Segregating In A Greek Island.

Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance.

Danon disease: further clinical and molecular heterogeneity.

Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.

Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency.

Seven cases of Pompe disease from Greece.

Carnitine supplementation and ketogenesis by small-for-date neonates on medium-and long-chain fatty acid formulae.

Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies.

Plasma lysosomal enzyme levels in patients with motor neuron disease.

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