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Dídac Casas-Alba, Antonio Martínez-Monseny, Rosa M Pino-Ramírez, Laia Alsina, Esperanza Castejón, Sergi Navarro-Vilarrubí, Belén Pérez-Dueñas, Mercedes Serrano, Francesc Palau, Alfredo García-Alix

Human mutation 2019;39(12):1752-1763

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Sialic acid storage disease and related disorders.

E M Strehle

Genetic testing 2004;7(2):113-21

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Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases.

Emyr Lloyd-Evans, Frances M Platt

Cell calcium 2011;50(2):200-5

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Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Tatyana Danyukova, Nataniel F Ludwig, Renata V Velho, Frederike L Harms, Nilay Güneş, Henning Tidow, Ida V Schwartz, Beyhan Tüysüz, Sandra Pohl

Human mutation 2021;41(1):133-139

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Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

Renata Voltolini Velho, Nataniel Floriano Ludwig, Taciane Alegra, Fernanda Sperb-Ludwig, Nicole Ruas Guarany, Ursula Matte, Ida V D Schwartz

Journal of human genetics 2017;61(6):555-60

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Results: 1 – 12 / 12

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Results for ""Mucolipidoses""[mesh_terms]

Molecular pathology of NEU1 gene in sialidosis.

Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects.

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.

Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review.

Mucolipidosis type IV.

Approach to Congenital Diarrhea and Enteropathies (CODEs).

Cation channel activity of mucolipin-1: the effect of calcium.

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

Sialic acid storage disease and related disorders.

Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases.

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta.

Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

Results for
""Mucolipidoses""[mesh_terms]