Works matching AU Marcão, Ana
Results: 10
Outcome of three cases of untreated maternal glutaric aciduria type I.
- Published in:
- 2008
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- Publication type:
- journal article
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 24, doi. 10.1007/s004390100531
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- Publication type:
- Article
Role of RNA in Molecular Diagnosis of MADD Patients.
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- Biomedicines, 2021, v. 9, n. 5, p. 507, doi. 10.3390/biomedicines9050507
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- Publication type:
- Article
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559
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- Publication type:
- Article
Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC;.
- Published in:
- Human Mutation, 1999, v. 13, n. 4, p. 337, doi. 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU14>3.0.CO;2-9
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- Publication type:
- Article
Prevalence of lysosomal storage diseases in Portugal.
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- European Journal of Human Genetics, 2004, v. 12, n. 2, p. 87, doi. 10.1038/sj.ejhg.5201044
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- Publication type:
- Article
Gaucher disease: expression and characterization of mild and severe acid β-glucosidase mutations in Portuguese type 1 patients.
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- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 95, doi. 10.1038/sj.ejhg.5200422
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- Publication type:
- Article
Four years of expanded newborn screening in Portugal with tandem mass spectrometry.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 133, doi. 10.1007/s10545-010-9048-z
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- Publication type:
- Article
Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 25, doi. 10.3390/ijns10010025
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- Publication type:
- Article
Missense mutations as a cause of metachromatic leukodystrophy.
- Published in:
- FEBS Journal, 2005, v. 272, n. 5, p. 1179, doi. 10.1111/j.1742-4658.2005.04553.x
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- Publication type:
- Article