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Mutations among Italian mucopolysaccharidosis type I patients.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 6, p. 803, doi. 10.1023/A:1005323918923
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- Publication type:
- Article
Mutation identification of Fabry disease in families with other lysosomal storage disorders.
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- Clinical Genetics, 2013, v. 84, n. 3, p. 281, doi. 10.1111/cge.12071
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- Publication type:
- Article
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
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- Clinical Genetics, 2011, v. 80, n. 5, p. 452, doi. 10.1111/j.1399-0004.2010.01572.x
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- Publication type:
- Article
Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
- Published in:
- Clinical Genetics, 2011, v. 80, n. 3, p. 273, doi. 10.1111/j.1399-0004.2010.01539.x
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- Publication type:
- Article
Genotype–phenotype correlation in five Pelizaeus–Merzbacher disease patients with PLP1 gene duplications.
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- Clinical Genetics, 2008, v. 73, n. 3, p. 279, doi. 10.1111/j.1399-0004.2007.00961.x
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- Publication type:
- Article
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 5, p. 427, doi. 10.1111/j.1399-0004.2007.00869.x
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- Publication type:
- Article
Movement and mood disorder in two brothers with Gaucher disease.
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- Clinical Genetics, 2007, v. 72, n. 4, p. 357, doi. 10.1111/j.1399-0004.2007.00863.x
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- Publication type:
- Article
Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 3, p. 261, doi. 10.1034/j.1399-0004.2003.00129.x
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- Publication type:
- Article
A New Approach to Bone Marrow Transplantation in Thalassemia.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 612, n. 1, p. 394, doi. 10.1111/j.1749-6632.1990.tb24326.x
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- Publication type:
- Article
Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases.
- Published in:
- 1985
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- Publication type:
- journal article
Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells.
- Published in:
- Prenatal Diagnosis, 1985, v. 5, n. 2, p. 149, doi. 10.1002/pd.1970050209
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- Publication type:
- Article
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
- Published in:
- 2009
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- Publication type:
- Letter
Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 11, p. 875, doi. 10.1007/s004150070076
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- Publication type:
- Article
Ureteroscopia della calcolosi ureterale: la nostra esperienza.
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- Urologia Journal, 2009, v. 76, n. S-15, p. S45
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- Publication type:
- Article
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. E27, doi. 10.1002/humu.20753
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- Publication type:
- Article
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
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- Human Mutation, 2006, v. 27, n. 10, p. 999, doi. 10.1002/humu.20374
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- Publication type:
- Article
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
- Published in:
- Human Mutation, 2006, v. 27, n. 6, p. 600, doi. 10.1002/humu.9426
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- Publication type:
- Article
Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
- Published in:
- Human Mutation, 2004, v. 24, n. 2, p. 186, doi. 10.1002/humu.9263
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- Publication type:
- Article
Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1.
- Published in:
- Human Mutation, 2004, v. 24, n. 1, p. 105, doi. 10.1002/humu.9258
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- Publication type:
- Article
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.
- Published in:
- Neurogenetics, 2005, v. 6, n. 4, p. 195, doi. 10.1007/s10048-005-0011-3
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- Publication type:
- 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>
- Published in:
- Human Mutation, 2003, v. 22, n. 4, p. 337, doi. 10.1002/humu.9177
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- Publication type:
- Article
Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.
- Published in:
- Human Mutation, 2002, v. 20, n. 3, p. 231, doi. 10.1002/humu.9051
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- Publication type:
- Article