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Obesity as a Confounding Factor in the Diagnosis of Wilson's Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses.
- Published in:
- Current Issues in Molecular Biology, 2024, v. 46, n. 6, p. 6112, doi. 10.3390/cimb46060365
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- Publication type:
- Article
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.
- Published in:
- Molecules, 2024, v. 29, n. 2, p. 453, doi. 10.3390/molecules29020453
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- Publication type:
- Article
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C.
- Published in:
- Biomedicines, 2022, v. 10, n. 8, p. N.PAG, doi. 10.3390/biomedicines10081962
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- Publication type:
- Article
Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis.
- Published in:
- Molecules, 2022, v. 27, n. 13, p. 4008, doi. 10.3390/molecules27134008
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- Publication type:
- Article
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4422, doi. 10.3390/ijms23084422
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- Publication type:
- Article
SARS-CoV-2 infection in a patient with propionic acidemia.
- Published in:
- 2020
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- Publication type:
- case study
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-53995-5
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- Publication type:
- Article
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 1, p. 92, doi. 10.1007/s00415-018-9084-4
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- Publication type:
- Article
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0694-6
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- Publication type:
- Article
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1529, doi. 10.1007/s11011-017-0044-y
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- Publication type:
- Article
Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 357, doi. 10.1002/humu.22751
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- Publication type:
- Article
Morquio A Syndrome-Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus-Specific Database.
- Published in:
- Human Mutation, 2014, v. 35, n. 11, p. 1271, doi. 10.1002/humu.22635
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- Publication type:
- Article
Galactosialidosis: review and analysis of CTSA gene mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-114
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- Publication type:
- Article
Galactosialidosis: review and analysis of CTSA gene mutations.
- Published in:
- 2013
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- Publication type:
- journal article
Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies.
- Published in:
- Scientific World Journal, 2013, p. 1, doi. 10.1155/2013/625824
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- Publication type:
- Article
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
- Published in:
- 2009
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- Publication type:
- Letter
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 11, p. 1311, doi. 10.1038/ejhg.2008.109
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- Publication type:
- Article
OTHER LYSOSOMAL STORAGE DISEASES.
- Published in:
- Acta Paediatrica, 2008, p. 119, doi. 10.1111/j.1651-2227.2008.00657_4.x
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- Publication type:
- Article
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 204, doi. 10.1002/humu.9475
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- Publication type:
- Article
Role of β-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with G<sub>M1</sub>-gangliosidosis.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 285, doi. 10.1002/humu.20147
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- Publication type:
- Article
Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
- Published in:
- Human Mutation, 2004, v. 24, n. 6, p. 536, doi. 10.1002/humu.9296
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- Publication type:
- Article
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
- Published in:
- Human Mutation, 2004, v. 24, n. 4, p. 352, doi. 10.1002/humu.9279
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- Publication type:
- Article
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
- Published in:
- Human Genetics, 2003, v. 113, n. 1, p. 44, doi. 10.1007/s00439-003-0930-8
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- Publication type:
- Article
Severe prognosis in a large family with hypokalemic periodic paralysis.
- Published in:
- Muscle & Nerve, 2003, v. 27, n. 2, p. 165, doi. 10.1002/mus.10298
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- Publication type:
- Article