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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
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
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- 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
Effects of miglustat treatment in a patient affected by an atypical form of Tangier Disease.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0143-3
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- 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
Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease.
- Published in:
- 2014
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- Publication type:
- journal article
Genotype-phenotype correlation in Pompe disease, a step forward.
- Published in:
- 2014
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- 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
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- Publication type:
- Article
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skin.
- Published in:
- 2013
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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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- Article
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5538, doi. 10.3390/ijms22115538
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- Publication type:
- Article
CRISPR/Cas9 Editing for Gaucher Disease Modelling.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 9, p. 3268, doi. 10.3390/ijms21093268
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- Article
Molecular Genetics of Niemann–Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
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- Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 679, doi. 10.3390/jcm9030679
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- 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
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
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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- Article
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.
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- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516
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- Publication type:
- Article
Consensus clinical management guidelines for Niemann-Pick disease type C.
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- 2018
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- Publication type:
- journal article
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
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- 2018
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- Publication type:
- journal article
Chronic pain in Gaucher disease: skeletal or neuropathic origin?
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- 2017
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- Publication type:
- journal 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
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
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- Publication type:
- journal 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
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
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
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
Functional analysis of 11 novel GBA alleles.
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- 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
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
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- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 422, doi. 10.1038/ejhg.2010.188
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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
Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis.
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- 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
Clinical and neurophysiological characteristics of heterozygous NPC1 carriers.
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- 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
Expression of the Aromatase Gene in the Human Prepubertal Testis.
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- Journal of Pediatric Endocrinology & Metabolism, 2000, v. 13, n. 5, p. 483, doi. 10.1515/jpem.2000.13.5.483
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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
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.
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- Journal of Cellular & Molecular Medicine, 2009, v. 13, n. 9b, p. 3786, doi. 10.1111/j.1582-4934.2008.00493.x
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- Publication type:
- Article
Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular models.
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- FASEB Journal, 2015, v. 29, n. 9, p. 3839, doi. 10.1096/fj.15-271148
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- Article
Enzyme Replacement Therapy in Pompe Disease.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 2, p. 33
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- Article
The c.‐265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identified.
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- Clinical Genetics, 2024, v. 106, n. 5, p. 661, doi. 10.1111/cge.14591
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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
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
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
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
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- Journal of Neurology, 2014, v. 261, n. 4, p. 804, doi. 10.1007/s00415-014-7282-2
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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
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 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
Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 727, doi. 10.1007/s10545-010-9201-8
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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
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
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
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
Enigmatic In Vivo iduronate-2-sulfatase ( IDS) mutant transcript correction to wild-type in Hunter syndrome.
- Published in:
- Human Mutation, 2010, v. 31, n. 4, p. E1261, doi. 10.1002/humu.21208
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- Publication type:
- Article
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit ( GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. E956, doi. 10.1002/humu.21099
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- Publication type:
- Article