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「"Michelakakis H "[Author]」の検索結果

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"Old Roads-New Connections" SSIEM 2018 Annual Symposium in Athens.

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.

Circulating Brain-enriched MicroRNAs for detection and discrimination of idiopathic and genetic Parkinson's disease.

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

Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann - Pick type C and Sanfilippo diseases.

Towards understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

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

Phenotypic Characteristics in GBA-Associated Parkinson's Disease: A Study in a Greek Population.

Alpha-synuclein dimerization in erythrocytes of patients with genetic and non-genetic forms of Parkinson's Disease.

Late-onset Pompe's disease in a hemodialysis patient: A first case report.

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

Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.

Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.

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

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

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.

Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

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

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

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