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List of works by Maria Gil Ribeiro

Accumulation of ordered ceramide-cholesterol domains in farber disease fibroblasts

scientific article published on 12 July 2013

Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant

scientific article published on 01 January 1991

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

scientific article published on 23 October 2007

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

scientific article

Identification of GM2-gangliosidosis B1 variant carriers

scientific article published on 01 January 1993

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

scientific article

Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.

scientific article

Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients

scientific article published on 01 January 1995

Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

scientific article published on 10 October 2013

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

scientific article

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