Found: 12
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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
- Published in:
- Human Genetics, 2001, v. 109, n. 5, p. 503, doi. 10.1007/s004390100606
- By:
- Publication type:
- Article
The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 1/2, p. 83, doi. 10.1515/jpem-2013-0390
- By:
- Publication type:
- Article
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 357, doi. 10.1007/s10545-017-0022-x
- By:
- Publication type:
- Article
CLN8 disease caused by large genomic deletions.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 85, doi. 10.1002/mgg3.263
- By:
- Publication type:
- Article
Case of X-Linked Myopathy With Excessive Autophagy.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 5, p. 431, doi. 10.2310/7010.2006.00117
- By:
- Publication type:
- Article
Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 12, p. 1567, doi. 10.1002/pd.6455
- By:
- Publication type:
- Article
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
- Published in:
- Human Mutation, 2017, v. 38, n. 11, p. 1555, doi. 10.1002/humu.23301
- By:
- Publication type:
- Article
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
- Published in:
- Human Mutation, 2004, v. 23, n. 6, p. 559, doi. 10.1002/humu.20037
- By:
- Publication type:
- Article
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 8, p. 1077, doi. 10.1093/hmg/ddi120
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- Publication type:
- Article
Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotypephenotype correlation in glycogen storage disease type II (Communicated by Elizabeth Neufeld).
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 47, doi. 10.1002/humu.10286
- By:
- Publication type:
- Article
The identification of five novel mutations in the lysosomal acid a-(1,4) glucosidase gene from patients with glycogen storage disease type II.
- Published in:
- Human Mutation, 1998, v. 11, n. 5, p. 413, doi. 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I
- By:
- Publication type:
- Article