Found: 18
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Gene dosage of the spermidine/spermine N<sup>1</sup>-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 235, doi. 10.1007/s00439-002-0791-6
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- Publication type:
- Article
Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.
- Published in:
- Human Genetics, 2000, v. 107, n. 6, p. 568, doi. 10.1007/s004390000429
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- Publication type:
- Article
Severity of Bone Marrow Involvement in Patients with Gaucher's Disease Evaluated by Scintigraphy with <sup>99m</sup>Tc-Sestamibi.
- Published in:
- Journal of Nuclear Medicine, 2003, v. 44, n. 8, p. 1253
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- Publication type:
- Article
An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 2, p. 125, doi. 10.1038/sj.ejhg.5200266
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- Publication type:
- Article
L-dopa in children with progressive neurological disorders.
- Published in:
- Annals of Neurology, 1980, v. 7, n. 1, p. 93, doi. 10.1002/ana.410070119
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- Publication type:
- Article
Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 8, p. 668, doi. 10.1002/pd.112
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- Publication type:
- Article
Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 10, p. 993, doi. 10.1002/(SICI)1097-0223(199910)19:10<993::AID-PD661>3.0.CO;2-L
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- Publication type:
- 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
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
- Published in:
- Human Mutation, 2002, v. 20, n. 3, p. 234, doi. 10.1002/humu.9058
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- Publication type:
- Article
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
- Published in:
- Human Mutation, 2001, v. 18, n. 2, p. 164, doi. 10.1002/humu.1169
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- Publication type:
- Article
A novel mutation, Y103X, and exon skipping in a patient with Hunter disease.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 389, doi. 10.1002/(SICI)1098-1004(200004)15:4<389::AID-HUMU30>3.0.CO;2-3
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- Publication type:
- Article
Jagged-1 mutation analysis in Italian Alagille syndrome patients.
- Published in:
- Human Mutation, 1999, v. 14, n. 5, p. 394, doi. 10.1002/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1
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- Publication type:
- Article
New mutation (S298P) in a patient with glycogen storage disease type IA.
- Published in:
- Human Mutation, 1998, v. 11, p. S329, doi. 10.1002/humu.13801101109
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- Publication type:
- Article
Two New Nonsense mutations (Q80X; Q389X) in patients with severe hunter syndrome ( mucopolysaccharidosis type II).
- Published in:
- Human Mutation, 1996, v. 7, n. 2, p. 184, doi. 10.1002/humu.1380070204
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- Publication type:
- Article
A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 6, p. 474, doi. 10.1111/j.1399-0004.1998.tb02598.x
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- Publication type:
- Article
A novel mutation of the β-glucocererebrosidase gene associated with neurologic manifestations in three sibs.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 4, p. 281, doi. 10.1111/j.1399-0004.1998.tb02697.x
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- Publication type:
- Article
A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 1, p. 65, doi. 10.1111/j.1399-0004.1997.tb02518.x
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- Publication type:
- Article
A rare G6490 → substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 3, p. 123, doi. 10.1111/j.1399-0004.1995.tb04070.x
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- Publication type:
- Article