Found: 6
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Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.
- Published in:
- British Journal of Dermatology, 2009, v. 160, n. 3, p. 704, doi. 10.1111/j.1365-2133.2008.08888.x
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- Article
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 4, p. 489, doi. 10.1111/cge.12642
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- Article
Osteogenesis imperfecta and the teeth, eyes, and ears—a study of non-skeletal phenotypes in adults.
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- Osteoporosis International, 2018, v. 29, n. 12, p. 2781, doi. 10.1007/s00198-018-4663-x
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- Article
Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: Case Report.
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- Human Reproduction, 2007, v. 22, n. 7, p. 1907, doi. 10.1093/humrep/dem126
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- Article
Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets.
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- Annals of Nutrition & Metabolism, 2012, v. 61, n. 4, p. 289, doi. 10.1159/000342256
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- Article
On the neurotoxicity of glutaric, 3‐hydroxyglutaric, and trans‐glutaconic acids in glutaric acidemia type 1.
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- Journal of Neuroscience Research, 2004, v. 77, n. 1, p. 143, doi. 10.1002/jnr.20136
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- Article