Found: 10
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UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 383, doi. 10.1023/A:1005699719068
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- Publication type:
- Article
Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia.
- Published in:
- 1997
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- Publication type:
- journal article
Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia.
- Published in:
- European Journal of Pediatrics, 1997, v. 156, n. 8, p. 605, doi. 10.1007/s004310050674
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- Publication type:
- Article
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 3, p. 306, doi. 10.1111/cge.13003
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- Publication type:
- Article
Clinical presentation of pediatric multiple sclerosis before puberty.
- Published in:
- European Journal of Neurology, 2014, v. 21, n. 3, p. 441, doi. 10.1111/ene.12327
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- Publication type:
- Article
Treatment of MOG antibody associated disorders: results of an international survey.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 12, p. 3565, doi. 10.1007/s00415-020-10026-y
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- Publication type:
- Article
Multiple Sklerose im Kindes- und Jugendalter.
- Published in:
- Der Nervenarzt, 2017, v. 88, n. 12, p. 1377, doi. 10.1007/s00115-017-0422-z
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- Publication type:
- Article
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1369
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- Publication type:
- Article
Endocrinological study on growth retardation in Rett syndrome.
- Published in:
- 2001
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- Publication type:
- journal article
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
- Published in:
- Human Mutation, 2001, v. 17, n. 3, p. 183, doi. 10.1002/humu.3
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- Publication type:
- Article