Found: 31
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Carbohydrate-deficient glycoprotein syndromes: The Italian experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 391, doi. 10.1023/A:1005608019977
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- Article
Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 6, p. 733, doi. 10.1023/A:1005548201355
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- Article
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b.
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- 2009
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- Publication type:
- journal article
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
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- 1998
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- Publication type:
- journal article
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease.
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- Clinical Genetics, 2014, v. 86, n. 3, p. 258, doi. 10.1111/cge.12261
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- Article
Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey.
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- Clinical Genetics, 2012, v. 81, n. 5, p. 485, doi. 10.1111/j.1399-0004.2011.01671.x
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- Article
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
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- Clinical Genetics, 2012, v. 81, n. 3, p. 224, doi. 10.1111/j.1399-0004.2011.01689.x
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- Publication type:
- Article
Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz Severity Score Index.
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- Clinical Genetics, 2008, v. 74, n. 3, p. 260, doi. 10.1111/j.1399-0004.2008.01012.x
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- Article
Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.
- Published in:
- 2017
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- Publication type:
- journal article
Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation.
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- European Journal of Endocrinology, 2001, v. 144, n. 4, p. 409, doi. 10.1530/eje.0.1440409
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- Article
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
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- 2005
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- Publication type:
- journal article
Allogeneic bone marrow stem cell transplantation following CD34+ immunomagnetic enrichment in patients with inherited metabolic storage diseases.
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- Bone Marrow Transplantation, 2003, v. 31, n. 10, p. 857, doi. 10.1038/sj.bmt.1704024
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- Article
The use of recombinant human growth hormone in patients with Mucopolysaccharidoses and growth hormone deficiency: a case series.
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- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0691-1
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- Article
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
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- Journal of Neurology, 2015, v. 262, n. 1, p. 154, doi. 10.1007/s00415-014-7549-7
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- Publication type:
- Article
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
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- Journal of Neurology, 2012, v. 259, n. 5, p. 952, doi. 10.1007/s00415-011-6293-5
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- Publication type:
- Article
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 957, doi. 10.1007/s10545-014-9803-7
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- Article
Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome.
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- 2006
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- Publication type:
- Report
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
- Published in:
- 2005
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- Publication type:
- Report
Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings.
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- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 609, doi. 10.1023/B:BOLI.0000042980.45692.bb
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- Publication type:
- Article
Impaired Bone Metabolism in Glycogen Storage Disease Type 1 Is Associated with Poor Metabolic Control in Type 1a and with Granulocyte Colony-Stimulating Factor Therapy in Type 1b.
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- Hormone Research in Paediatrics, 2014, v. 81, n. 1, p. 55, doi. 10.1159/000351022
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- Article
Safety of agalsidase alfa in patients with Fabry disease under 7 years.
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- Acta Paediatrica, 2011, v. 100, n. 4, p. 605, doi. 10.1111/j.1651-2227.2010.02101.x
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- Article
OTHER LYSOSOMAL STORAGE DISEASES.
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- Acta Paediatrica, 2008, p. 119, doi. 10.1111/j.1651-2227.2008.00657_4.x
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- Publication type:
- Article
Enzyme replacement therapy with agalsidase alfa in children with Fabry disease.
- Published in:
- 2007
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- Publication type:
- journal article
Mutational analysis of the AGL gene: Five novel mutations in GSD III patients <FN ID="fn1">Communicated by William S. Sly</FN><FN ID="fn2">Online Citation: Human Mutation, Mutation in Brief #648 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/648.pdf</FN>
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- Human Mutation, 2003, v. 22, n. 4, p. 337, doi. 10.1002/humu.9177
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- Article
Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
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- Human Mutation, 2002, v. 20, n. 6, p. 480, doi. 10.1002/humu.9093
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- Article
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.
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- Human Mutation, 2002, v. 20, n. 3, p. 231, doi. 10.1002/humu.9051
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- Publication type:
- Article
β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
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- Human Mutation, 2000, v. 15, n. 4, p. 354, doi. 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L
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- Publication type:
- Article
Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.
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- British Journal of Dermatology, 2012, v. 166, n. 4, p. 712, doi. 10.1111/j.1365-2133.2012.10742.x
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- Article
Fabry disease and the skin: data from FOS, the Fabry outcome survey.
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- British Journal of Dermatology, 2007, v. 157, n. 2, p. 331, doi. 10.1111/j.1365-2133.2007.08002.x
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- Publication type:
- Article
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
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- Clinical Endocrinology, 2005, v. 63, n. 1, p. 19, doi. 10.1111/j.1365-2265.2005.02292.x
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- Article
Removal of Streptococcus mutans biofilm by bubbles.
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- Journal of Clinical Periodontology, 2005, v. 32, n. 11, p. 1151, doi. 10.1111/j.1600-051X.2005.00836.x
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- Publication type:
- Article