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Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6615, doi. 10.3390/ijms25126615
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- Publication type:
- Article
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.
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- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00365-w
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- Publication type:
- Article
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00365-w
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- Publication type:
- Article
First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha‐mannosidosis.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1948, doi. 10.1002/ajmg.a.63210
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- Publication type:
- Article
Exploring the Pathophysiologic Cascade Leading to Osteoclastogenic Activation in Gaucher Disease Monocytes Generated via CRISPR/Cas9 Technology.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 11204, doi. 10.3390/ijms241311204
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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
Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 532, doi. 10.3390/biom13030532
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- Publication type:
- Article
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
- Published in:
- 2022
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- Publication type:
- journal article
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 12870, doi. 10.3390/ijms222312870
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- Publication type:
- Article
Plasma Neurofilament Light (NfL) in Patients Affected by Niemann–Pick Type C Disease (NPCD).
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 20, p. 4796, doi. 10.3390/jcm10204796
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- Publication type:
- Article
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5538, doi. 10.3390/ijms22115538
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- Publication type:
- Article
Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 15, doi. 10.1002/jmd2.12144
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- Publication type:
- Article
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study.
- Published in:
- 2020
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- Publication type:
- journal article
CRISPR/Cas9 Editing for Gaucher Disease Modelling.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 9, p. 3268, doi. 10.3390/ijms21093268
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- Publication type:
- Article
Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 574, doi. 10.1002/jimd.12191
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- Publication type:
- Article
Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann–Pick C disease.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 105, doi. 10.1007/s10048-019-00600-6
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- Publication type:
- Article
Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 679, doi. 10.3390/jcm9030679
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- Publication type:
- Article
Assessment of the functional impact on the pre‐mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 2121, doi. 10.1002/humu.23867
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- Publication type:
- Article
Clinical and neurophysiological characteristics of heterozygous NPC1 carriers.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 80, doi. 10.1002/jmd2.12059
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- Publication type:
- Article
Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
- Published in:
- 2019
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- Publication type:
- Case Study
Histone acetylation as a new mechanism for bilirubin-induced encephalopathy in the Gunn rat.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-32106-w
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- Publication type:
- Article
Consensus clinical management guidelines for Niemann-Pick disease type C.
- Published in:
- 2018
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- Publication type:
- journal article
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 2, p. 209, doi. 10.1007/s10545-017-0098-3
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- Publication type:
- Article
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
- Published in:
- 2018
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- Publication type:
- journal article
Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.
- Published in:
- Genes, 2018, v. 9, n. 2, p. 73, doi. 10.3390/genes9020073
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- Publication type:
- Article
Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.
- Published in:
- 2017
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- Publication type:
- journal article
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
- Published in:
- 2017
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- Publication type:
- journal article
In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 849, doi. 10.1002/humu.23243
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- Publication type:
- Article
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2277, doi. 10.1093/hmg/ddx118
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- Publication type:
- Article
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
- Published in:
- Human Mutation, 2016, v. 37, n. 2, p. 139, doi. 10.1002/humu.22923
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- Publication type:
- Article
Profile of eliglustat tartrate in the management of Gaucher disease.
- Published in:
- 2016
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- Publication type:
- journal article
Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.
- Published in:
- FASEB Journal, 2015, v. 29, n. 9, p. 3839, doi. 10.1096/fj.15-271148
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- Publication type:
- Article
Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twins.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 3, p. 642, doi. 10.1007/s00415-014-7619-x
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- Publication type:
- Article
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
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- Publication type:
- Article
Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112503
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- Publication type:
- Article
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0143-3
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- Publication type:
- Article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0102-z
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- Publication type:
- Article
Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.
- Published in:
- BMC Cardiovascular Disorders, 2014, v. 14, n. 1, p. 86, doi. 10.1186/1471-2261-14-86
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- Publication type:
- Article
Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's disease.
- Published in:
- Movement Disorders, 2014, v. 29, n. 8, p. 1019, doi. 10.1002/mds.25772
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- Publication type:
- Article
Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 6, p. 805, doi. 10.1007/s00431-013-2258-2
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- Publication type:
- Article
Functional analysis of 11 novel GBA alleles.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 511, doi. 10.1038/ejhg.2013.182
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- Publication type:
- Article
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
- Published in:
- Journal of Neurology, 2014, v. 261, n. 4, p. 804, doi. 10.1007/s00415-014-7282-2
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- Publication type:
- Article
Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 2, p. 1291, doi. 10.1093/nar/gkt987
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- Publication type:
- Article
Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease.
- Published in:
- 2014
- By:
- Publication type:
- journal article
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-34
- By:
- Publication type:
- Article
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1101, doi. 10.1007/s10545-012-9476-z
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- Publication type:
- Article
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516
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- Publication type:
- Article