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Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.
- Published in:
- Cell Biochemistry & Biophysics, 2023, v. 81, n. 3, p. 533, doi. 10.1007/s12013-023-01149-w
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- Publication type:
- Article
Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system.
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- Journal of Gene Medicine, 2022, v. 24, n. 4, p. 1, doi. 10.1002/jgm.3410
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- Publication type:
- Article
Spinal cord issues in adult patients with MPS: transition of care survey.
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- Child's Nervous System, 2018, v. 34, n. 9, p. 1759, doi. 10.1007/s00381-018-3834-6
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- Publication type:
- Article
Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?
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- Child's Nervous System, 2017, v. 33, n. 7, p. 1073, doi. 10.1007/s00381-017-3476-0
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- Publication type:
- Article
Understanding the natural history of Gaucher disease.
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- American Journal of Hematology, 2015, v. 90, p. S6, doi. 10.1002/ajh.24055
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- Publication type:
- Article
Effects of Cryopreservation and Hypothermic Storage on Cell Viability and Enzyme Activity in Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase.
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- Artificial Organs, 2010, v. 34, n. 5, p. 434, doi. 10.1111/j.1525-1594.2009.00880.x
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- Publication type:
- Article
Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells.
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- Nephrology, 2017, v. 22, n. 6, p. 490, doi. 10.1111/nep.12977
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- Publication type:
- Article
Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years.
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- Public Health Genomics, 2016, v. 19, n. 5, p. 290, doi. 10.1159/000448912
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- Publication type:
- Article
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (<italic>valanafusp alpha</italic>): an open label phase 1-2 trial
- Published in:
- 2018
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- Publication type:
- journal article
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS).
- Published in:
- 2017
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- Publication type:
- journal article
Enzyme Assays on Dried Blood Filter Paper Samples for Specific Detection of Selected Inherited Lysosomal Storage Diseases.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2007, v. 6, n. 4, p. 103
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- Publication type:
- Article
Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy.
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- Heart & Vessels, 2019, v. 34, n. 2, p. 290, doi. 10.1007/s00380-018-1242-1
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- Publication type:
- Article
A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity.
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- Human Heredity, 2014, v. 77, n. 1-4, p. 189, doi. 10.1159/000358404
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- Publication type:
- Article
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
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- International Journal of Developmental Neuroscience, 2018, v. 66, p. 18, doi. 10.1016/j.ijdevneu.2017.11.007
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- Publication type:
- Article
The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil.
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- Experimental Dermatology, 2011, v. 20, n. 11, p. 890, doi. 10.1111/j.1600-0625.2011.01332.x
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- Publication type:
- Article
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
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- Journal of Human Genetics, 2004, v. 49, n. 9, p. 490, doi. 10.1007/s10038-004-0178-8
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- Publication type:
- Article
Newborn Screening for Congenital Infectious Disease.
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- Emerging Infectious Diseases, 2004, v. 10, n. 6, p. 1069, doi. 10.3201/eid1006.030830
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- Publication type:
- Article
Development of a bile acid–based newborn screen for Niemann-Pick disease type C.
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- Science Translational Medicine, 2016, v. 8, n. 337, p. 1, doi. 10.1126/scitranslmed.aaf2326
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- Publication type:
- Article
Encapsulated Whole Bone Marrow Cells Improve Survival in Wistar Rats after 90% Partial Hepatectomy.
- Published in:
- Stem Cells International, 2015, p. 1, doi. 10.1155/2016/4831524
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- Publication type:
- Article
Mucopolissacaridose tipo I em cão.
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- Acta Scientiae Veterinariae, 2021, v. 49, p. 1, doi. 10.22456/1679-9216.110624
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- Publication type:
- Article
A Brazilian Rare-Disease Center's Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2870, doi. 10.3390/ijms25052870
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- Publication type:
- Article
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 20, p. 10938, doi. 10.3390/ijms222010938
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- Publication type:
- Article
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9200, doi. 10.3390/ijms22179200
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- Publication type:
- Article
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene.
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- Molecular Neurobiology, 2019, v. 56, n. 9, p. 6426, doi. 10.1007/s12035-019-1528-z
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- Publication type:
- Article
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
- Published in:
- 2017
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- Publication type:
- journal article
Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion.
- Published in:
- Child's Nervous System, 2006, v. 22, n. 10, p. 1355, doi. 10.1007/s00381-006-0082-y
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- Publication type:
- Article
Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil
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- Asian Pacific Journal of Tropical Biomedicine, 2011, v. 1, n. 2, p. 110, doi. 10.1016/S2221-1691(11)60006-3
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- Publication type:
- Article
Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis.
- Published in:
- Drug Design, Development & Therapy, 2019, v. 13, p. 3705, doi. 10.2147/DDDT.S207856
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- Publication type:
- Article
Characterization of joint disease in mucopolysaccharidosis type I mice.
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- International Journal of Experimental Pathology, 2013, v. 94, n. 5, p. 305, doi. 10.1111/iep.12033
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- Publication type:
- Article
Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells.
- Published in:
- Cells Tissues Organs, 2012, v. 195, n. 4, p. 323, doi. 10.1159/000327532
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- Publication type:
- Article
Glycosidase active site mutationsin human α-L-iduronidase.
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- Glycobiology, 2001, v. 11, n. 9, p. 741, doi. 10.1093/glycob/11.9.741
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- Publication type:
- Article
Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy
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- International Journal of Developmental Neuroscience, 2007, v. 25, n. 7, p. 441, doi. 10.1016/j.ijdevneu.2007.08.008
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- Publication type:
- Article
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I.
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- BioDrugs, 2018, v. 32, n. 2, p. 169, doi. 10.1007/s40259-018-0264-7
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- Publication type:
- Article
Orthopedic manifestations in patients with muco-polysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.
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- Orthopedic Reviews, 2010, v. 2, n. 2, p. 56, doi. 10.4081/or.2010.e16
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- Publication type:
- Article
Infections in temporary access for hemodialysis in chronic renal failure patients.
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- Revista de Pesquisa: Cuidado é Fundamental, 2019, v. 11, n. 1, p. 20, doi. 10.9789/2175-5361.2019.v11i1.20-24
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- Publication type:
- Article
Clinical trials for genetic diseases in Latin America.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 381, doi. 10.1002/ajmg.c.31934
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- Publication type:
- Article
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).
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- Therapeutics & Clinical Risk Management, 2022, v. 18, p. 1143, doi. 10.2147/TCRM.S351300
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- Publication type:
- Article
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
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- Clinical Genetics, 2019, v. 96, n. 4, p. 281, doi. 10.1111/cge.13583
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- Publication type:
- Article
Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I.
- Published in:
- Pharmaceutical Research, 2015, v. 32, n. 3, p. 941, doi. 10.1007/s11095-014-1508-y
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- Publication type:
- Article
Effects of imilglucerase withdrawal on an adult with gaucher disease.
- Published in:
- British Journal of Haematology, 2001, v. 113, n. 4, p. 1088, doi. 10.1046/j.1365-2141.2001.02821-13.x
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- Publication type:
- Article
Consistency of self-reported first-degree family history of cancer in a population-based study.
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- Familial Cancer, 2009, v. 8, n. 3, p. 195, doi. 10.1007/s10689-008-9228-2
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- Publication type:
- Article
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 8, p. 653, doi. 10.1002/pd.967
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- Publication type:
- Article
Encapsulated Whole Bone Marrow Cells Improve Survival in Wistar Rats after 90% Partial Hepatectomy.
- Published in:
- Thrombosis, 2015, p. 1, doi. 10.1155/2016/4831524
- By:
- Publication type:
- Article
impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.
- Published in:
- Drug Design, Development & Therapy, 2015, v. 9, p. 1937, doi. 10.2147/DDDT.S68562
- By:
- Publication type:
- Article
Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb<sub>3</sub>) in Fabry Transgenic Mice and in the Plasma of Fabry Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057631
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- Publication type:
- Article
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02983-0
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- Publication type:
- Article
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02875-3
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- Publication type:
- Article
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B).
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02686-6
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- Publication type:
- Article
Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.
- Published in:
- 2023
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- Publication type:
- Correction Notice