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UnknownPrevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann - Pick type C and Sanfilippo diseases.
Not available
S-EPMC6554541 | biostudies-literature
UnknownThe Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
Not available
S-EPMC5059214 | biostudies-literature
UnknownNovel 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.
Not available
S-EPMC5415950 | biostudies-literature
Unknowna-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy.
Not available
S-EPMC9897572 | biostudies-literature
UnknownNeuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.
Not available
S-EPMC5026284 | biostudies-literature
UnknownA novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
Not available
S-EPMC7057115 | biostudies-literature
UnknownThe Spectrum of Niemann-Pick Type C Disease in Greece.
Not available
S-EPMC5680277 | biostudies-literature
UnknownPatient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.
Not available
S-EPMC9768924 | biostudies-literature
UnknownMitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.
Not available
S-EPMC8649387 | biostudies-literature
UnknownSegmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Not available
S-EPMC6777471 | biostudies-literature
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