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The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses.
- Published in:
- Cardiology in the Young, 2009, v. 19, n. 2, p. 170, doi. 10.1017/S1047951109003576
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- Publication type:
- Article
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
- Published in:
- 2019
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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.
- Published in:
- 2018
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- Publication type:
- journal article
Safety of anesthesia for children with mucopolysaccharidoses: A retrospective analysis of 54 patients.
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- Pediatric Anesthesia, 2018, v. 28, n. 5, p. 436, doi. 10.1111/pan.13379
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- Publication type:
- Article
Water Apparent Diffusion Coefficient and T2 Changes in the Acute Stage of Maple Syrup Urine Disease: Evidence of Intramyelinic and Vasogenic-Interstitial Edema.
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- Journal of Neuroimaging, 2003, v. 13, n. 2, p. 162, doi. 10.1177/1051228403251084
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- Publication type:
- Article
The Fanconi-Bickel Syndrome: a Case of Neonatal Onset.
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- Journal of Perinatology, 2004, v. 24, n. 5, p. 322, doi. 10.1038/sj.jp.7211092
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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
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
Intravenous enzyme replacement therapy: hospital vs home.
- Published in:
- British Journal of Nursing, 2010, v. 19, n. 14, p. 892, doi. 10.12968/bjon.2010.19.14.49047
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- Publication type:
- Article
Molecular basis, diagnosis and clinical management of mucopolysaccharidoses.
- Published in:
- Cardiogenetics, 2013, v. 3, n. 1s, p. 2, doi. 10.4081/cardiogenetics.2013.s1.e2
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- Publication type:
- Article
Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age.
- Published in:
- Drug Design, Development & Therapy, 2020, v. 14, p. 2149, doi. 10.2147/DDDT.S249433
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- Publication type:
- Article
Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1160, doi. 10.1038/ejhg.2009.19
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- Publication type:
- Article
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
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
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- Publication type:
- Article
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.
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- Glycobiology, 2019, v. 29, n. 3, p. 229, doi. 10.1093/glycob/cwy112
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- Publication type:
- Article
Reconstitution of lymphocyte subpopulations in children with inherited metabolic storage diseases after haematopoietic cell transplantation.
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- British Journal of Haematology, 2005, v. 130, n. 2, p. 249, doi. 10.1111/j.1365-2141.2005.05585.x
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- Publication type:
- Article
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0566-x
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- Publication type:
- Article
Enzyme replacement therapy: efficacy and limitations.
- Published in:
- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0562-1
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- Publication type:
- Article
The new frame for Mucopolysaccharidoses.
- Published in:
- 2018
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- Publication type:
- Editorial
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 12, p. 2699, doi. 10.1007/s00415-012-6572-9
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- Publication type:
- Article
Vagal Nerve Stimulation in the Treatment of Drug-Resistant Epileptic Encephalopathies in Inborn Errors of Metabolism: Report of 2 Cases.
- Published in:
- Child Neurology Open, 2015, v. 2, n. 4, p. 1, doi. 10.1177/2329048X15612432
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- Publication type:
- Article
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
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
- Published in:
- Cerebellum, 2021, v. 20, n. 4, p. 596, doi. 10.1007/s12311-021-01242-x
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- Publication type:
- Article
Open issues in Mucopolysaccharidosis type I-Hurler.
- Published in:
- 2017
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- Publication type:
- journal article
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0253-6
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- Publication type:
- Article
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
- Published in:
- 2015
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- Publication type:
- journal article
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0129-1
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- Publication type:
- Article
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0105-9
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- Publication type:
- Article
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.
- Published in:
- 2014
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- Publication type:
- journal article
Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
- Published in:
- 2011
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- Publication type:
- journal article
Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities.
- Published in:
- Medicina (1010660X), 2022, v. 58, n. 1, p. 97, doi. 10.3390/medicina58010097
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- Publication type:
- Article
Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 770, doi. 10.1002/jimd.12224
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- Publication type:
- Article
Chronic liver involvement in urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1118, doi. 10.1002/jimd.12144
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- Publication type:
- Article
Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1105, doi. 10.1002/jimd.12108
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- Publication type:
- Article
Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 519, doi. 10.1002/jimd.12079
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- Publication type:
- Article
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 839, doi. 10.1007/s10545-016-9973-6
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- Publication type:
- Article
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6
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- Publication type:
- Article
Ocular manifestations in the mucopolysaccharidoses – a review.
- Published in:
- Clinical & Experimental Ophthalmology, 2010, v. 38, p. 12, doi. 10.1111/j.1442-9071.2010.02364.x
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- Publication type:
- Article
Modelling the resource implications of managing adults with Fabry disease in Italy.
- Published in:
- European Journal of Clinical Investigation, 2011, v. 41, n. 7, p. 710, doi. 10.1111/j.1365-2362.2010.02458.x
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- Publication type:
- Article
Mucopolysaccharidosis VI: the Italian experience.
- Published in:
- 2009
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- Publication type:
- journal article
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
- Published in:
- 2005
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- Publication type:
- journal article
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.
- Published in:
- 2003
- By:
- Publication type:
- journal article
The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.
- Published in:
- European Journal of Pediatrics, 2003, v. 162, n. 11, p. 767
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- Publication type:
- Article
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
- Published in:
- 2018
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- Publication type:
- journal article
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Fabry disease: beyond men.
- Published in:
- Acta Paediatrica, 2008, p. 31, doi. 10.1111/j.1651-2227.2008.00642.x
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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
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit ( GNPTG) gene in patients with mucolipidosis III gamma.
- Published in:
- Human Mutation, 2009, v. 30, n. 6, p. 978, doi. 10.1002/humu.20959
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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