Works matching DE "LYSOSOMAL storage diseases"
Results: 2806
Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease.
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- Polish Heart Journal / Kardiologia Polska, 2025, v. 83, n. 2, p. 231, doi. 10.33963/v.phj.103915
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- Article
Obstacles to Early Diagnosis of Gaucher Disease.
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- Therapeutics & Clinical Risk Management, 2025, v. 21, p. 93, doi. 10.2147/TCRM.S388266
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- Article
NASCI case of the month: "pseudo normalization of T1 values in Anderson-Fabry disease".
- Published in:
- 2025
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- Publication type:
- Case Study
Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese Case.
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- Diagnostics (2075-4418), 2025, v. 15, n. 4, p. 464, doi. 10.3390/diagnostics15040464
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- Article
Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.
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- Genes, 2025, v. 16, n. 2, p. 151, doi. 10.3390/genes16020151
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- Article
Dizziness in Fabry Disease.
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- Biomedicines, 2025, v. 13, n. 2, p. 249, doi. 10.3390/biomedicines13020249
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- Article
Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1471, doi. 10.3390/ijms26041471
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- Article
Anderson-Fabry disease in Austria.
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- Wiener Klinische Wochenschrift, 2003, v. 115, n. 7/8, p. 235, doi. 10.1007/BF03040321
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- Article
Bone manifestations of Gaucher's disease in Mexican patients.
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- Acta Ortopédica Mexicana, 2010, v. 24, n. 5, p. 349
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- Article
Manifestaciones óseas en enfermedad de Gaucher entre pacientes mexicanos.
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- Acta Ortopédica Mexicana, 2010, v. 24, n. 5, p. 351
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- Article
Phosphorus Dendrimers for Metal‐Free Ligation: Design of Multivalent Pharmacological Chaperones against Gaucher Disease.
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- Chemistry - A European Journal, 2023, v. 29, n. 53, p. 1, doi. 10.1002/chem.202301210
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- Publication type:
- Article
Potent and Selective Cell‐Active Iminosugar Inhibitors of Human α‐N‐Acetylgalactosaminidase (α‐NAGAL).
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- Chemistry - A European Journal, 2023, v. 29, n. 44, p. 1, doi. 10.1002/chem.202300982
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- Article
Lysosomal Targeting of β‐Cyclodextrin.
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- Chemistry - A European Journal, 2023, v. 29, n. 4, p. 1, doi. 10.1002/chem.202203252
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- Publication type:
- Article
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
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- Angewandte Chemie, 2022, v. 134, n. 38, p. 1, doi. 10.1002/ange.202207974
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- Article
Cathepsin D gene expression outlines the areas of physiological cell death during embryonic development.
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- Developmental Dynamics, 2007, v. 236, n. 3, p. 880
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- Publication type:
- Article
X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
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- Clinical & Experimental Nephrology, 2021, v. 25, n. 11, p. 1224, doi. 10.1007/s10157-021-02099-4
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- Publication type:
- Article
Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study.
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- Clinical & Experimental Nephrology, 2020, v. 24, n. 2, p. 157, doi. 10.1007/s10157-019-01810-w
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- Publication type:
- Article
Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new α-galactosidase mutation of Leu311Arg (L311R).
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- Clinical & Experimental Nephrology, 2011, v. 15, n. 6, p. 916, doi. 10.1007/s10157-011-0486-1
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- Article
Perspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease.
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- Pediatric & Developmental Pathology, 2016, v. 19, n. 5, p. 371, doi. 10.2350/14-06-1519-PB.1
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- Publication type:
- Article
A Case of Galactosialidosis with Novel Mutations of the Protective Protein/Cathepsin A Gene: Diagnosis Prompted by Trophoblast Vacuolization on Placental Examination.
- Published in:
- 2014
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- Publication type:
- Case Study
A Murine Model of Infantile Neuronal Ceroid Lipofuscinosis--Ultrastructural Evaluation of Storage in the Central Nervous System and Viscera.
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- Pediatric & Developmental Pathology, 2008, v. 11, n. 3, p. 185, doi. 10.2350/07-03-0242.1
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- Publication type:
- Article
Early Onset of Lysosomal Storage Disease in a Murine Model of Mucopolysaccharidosis Type VII: Undegraded Substrate Accumulates in Many Tissues in the Fetus and Very Young MPS VII Mouse.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 4, p. 453, doi. 10.1007/s10024-005-0025-8
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- Publication type:
- Article
Orthopaedic disorders of pycnodysostosis: a report of five clinical cases.
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- 2016
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- Publication type:
- journal article
Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann–Pick type C disease and Smith–Lemli–Opitz syndrome using light sheet microscopy.
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- Histochemistry & Cell Biology, 2020, v. 154, n. 5, p. 565, doi. 10.1007/s00418-020-01925-2
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- Publication type:
- Article
Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study.
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- Clinical Oral Investigations, 2018, v. 22, n. 1, p. 201, doi. 10.1007/s00784-017-2100-8
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- Publication type:
- Article
Production and characterization of a human lysosomal recombinant iduronate‐2‐sulfatase produced in Pichia pastoris.
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- Biotechnology & Applied Biochemistry, 2018, v. 65, n. 5, p. 655, doi. 10.1002/bab.1660
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- Article
Evaluation of butyrate-induced production of a mannose-6-phosphorylated therapeutic enzyme using parallel bioreactors.
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- Biotechnology & Applied Biochemistry, 2014, v. 61, n. 2, p. 184, doi. 10.1002/bab.1151
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- Article
Neuraminidase 4 (NEU4): new biological and physiological player.
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- Glycobiology, 2023, v. 33, n. 3, p. 182, doi. 10.1093/glycob/cwad008
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- Publication type:
- Article
Glucosylceramide and galactosylceramide, small glycosphingolipids with significant impact on health and disease.
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- Glycobiology, 2021, v. 31, n. 11, p. 1416, doi. 10.1093/glycob/cwab046
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- Article
Long-Term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency.
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- 2022
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- Publication type:
- journal article
Clinical Features of Lysosomal Acid Lipase Deficiency.
- Published in:
- 2015
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- Publication type:
- journal article
Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.
- Published in:
- 2024
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- Publication type:
- Literature Review
What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?
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- Turkish Archives of Otorhinolaryngology, 2023, v. 61, n. 2, p. 52, doi. 10.4274/tao.2023.2023-3-10
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- Publication type:
- Article
Serine protease inhibitor 2A is a protective factor for memory T cell development.
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- Nature Immunology, 2004, v. 5, n. 9, p. 919, doi. 10.1038/ni1107
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- Publication type:
- Article
Induction of Exocytosis Rescues Lysosomal GM2 Accumulation in Tay-Sachs Disease.
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- Advances in Cell & Gene Therapy, 2024, v. 2024, p. 1, doi. 10.1155/2024/4047025
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- Article
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.
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- Human Genetics, 2023, v. 142, n. 8, p. 1001, doi. 10.1007/s00439-023-02556-y
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- Publication type:
- Article
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.
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- Human Genetics, 2020, v. 139, n. 5, p. 657, doi. 10.1007/s00439-020-02153-3
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- Publication type:
- Article
A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease.
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- Neurological Sciences, 2024, v. 45, n. 9, p. 4597, doi. 10.1007/s10072-024-07579-5
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- Publication type:
- Article
A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.
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- Neurological Sciences, 2023, v. 44, n. 7, p. 2605, doi. 10.1007/s10072-023-06748-2
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- Article
Screening for Fabry disease in a series of Parkinson's disease patients and literature review.
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- Neurological Sciences, 2023, v. 44, n. 4, p. 1235, doi. 10.1007/s10072-022-06554-2
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- Publication type:
- Article
Cervical spondylolisthesis in mucopolysaccharidosis type II.
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- Neurological Sciences, 2023, v. 44, n. 1, p. 409, doi. 10.1007/s10072-022-06357-5
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- Publication type:
- Article
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
- Published in:
- 2018
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- Publication type:
- journal article
Fabry disease in patients with migraine with aura.
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- Neurological Sciences, 2010, v. 31, p. 167, doi. 10.1007/s10072-010-0314-5
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- Publication type:
- Article
Inheritance, Biochemical Abnormalities, and Clinical Features of Feline Mucolipidosis II: The First Animal Model of Human I-Cell Disease.
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- Journal of Heredity, 2003, v. 94, n. 5, p. 363, doi. 10.1093/jhered/esg080
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- Publication type:
- Article
LYSOSOMAL ACID LIPASE DEFICIENCY: WOLMAN DISEASE AND CHOLESTERYL ESTER STORAGE DISEASE.
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- Contributions / Prilozi (1857-9345), 2014, v. 35, n. 1, p. 99
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- Publication type:
- Article
Otolaryngological findings in mucopolysaccharidosis.
- Published in:
- Journal of Medical Updates, 2014, v. 4, n. 3, p. 122, doi. 10.2399/jmu.2014003001
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- Publication type:
- Article
Arylsulfatase a Gene Polymorphisms in Relapsing Remitting Multiple Sclerosis: Genotype-Phenotype Correlation and Estimation of Disease Progression.
- Published in:
- Collegium Antropologicum, 2011, v. 35, p. 11
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- Publication type:
- Article
Neurological Manifestation of Fabry Disease -- A Case Report.
- Published in:
- 2009
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- Publication type:
- Case Study
Endolysosomal two-pore channels regulate autophagy in cardiomyocytes.
- Published in:
- Journal of Physiology, 2016, v. 594, n. 11, p. 3061, doi. 10.1113/JP271332
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- Publication type:
- Article
Metabolic Storage Disorders at a Tertiary Care Hospital, Pakistan.
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- Journal of Liaquat University of Medical & Health Sciences, 2023, v. 22, n. 4, p. 277, doi. 10.22442/jlumhs.2023.01016
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- Publication type:
- Article