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COMMENT: NEWBORN SCREENING FOR LYSOSOMAL STORAGE DISORDERS: CURRENT ISSUES AND APPROACHES.
- Published in:
- Current Medical Literature: Lysosomal Storage Disease, 2005, v. 5, n. 3, p. 41
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- Publication type:
- Article
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 22, p. 2693, doi. 10.1093/hmg/ddm223
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- Publication type:
- Article
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 34, doi. 10.1038/sj.ejhg.5200242
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- Publication type:
- Article
Structure and Sequence of the Human Sulphamidase Gene.
- Published in:
- DNA Research, 1996, v. 3, n. 4, p. 269, doi. 10.1093/dnares/3.4.269
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- Publication type:
- Article
Minimum substrate requirements of endoglycosidase activities toward dermatan sulfate by electrospray ionization-tandem mass spectrometry.
- Published in:
- Glycobiology, 2008, v. 18, n. 12, p. 1119, doi. 10.1093/glycob/cwn097
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- Publication type:
- Article
A defect in exodegradative pathways provides insight into endodegradation of heparan and dermatan sulfates.
- Published in:
- Glycobiology, 2006, v. 16, n. 4, p. 318, doi. 10.1093/glycob/cwj072
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- Publication type:
- Article
Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 5, p. 898, doi. 10.1038/mt.2012.9
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- Publication type:
- Article
Replacing acid α-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
- Published in:
- Molecular Therapy, 2005, v. 11, n. 1, p. 48, doi. 10.1016/j.ymthe.2004.09.017
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- Publication type:
- Article
Laronidase Treatment of Mucopolysaccharidosis I.
- Published in:
- BioDrugs, 2005, v. 19, n. 1, p. 1, doi. 10.2165/00063030-200519010-00001
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- Publication type:
- Article
Prenatal diagnosis of Sanfilippo syndrome.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 2, p. 148, doi. 10.1002/pd.1094
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- Publication type:
- Article
Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.
- Published in:
- 1994
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- Publication type:
- journal article
Sanfilippo D syndrome: correction of glucosamine-6-sulphatase deficiency following fibroblast culture in Chang's media.
- Published in:
- 1991
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- Publication type:
- journal article
Prevalence of lysosomal storage disorders.
- Published in:
- 1999
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- Publication type:
- journal article
Disease stage determines the efficacy of treatment of a paediatric neurodegenerative disease.
- Published in:
- European Journal of Neuroscience, 2014, v. 39, n. 12, p. 2139, doi. 10.1111/ejn.12557
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- Publication type:
- Article
Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease.
- Published in:
- European Journal of Neuroscience, 2009, v. 29, n. 6, p. 1197, doi. 10.1111/j.1460-9568.2009.06666.x
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- Publication type:
- Article
The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis.
- Published in:
- 2015
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- Publication type:
- journal article
Enzymatic diagnosis of the mucopolysaccharidoses Experience of 96 cases diagnosed in a five‐year period.
- Published in:
- Medical Journal of Australia, 1982, v. 1, n. 6, p. 257, doi. 10.5694/j.1326-5377.1982.tb132293.x
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- Publication type:
- Article
Drosophila melanogaster models of MPS IIIC (Hgsnat‐deficiency) highlight the role of glia in disease presentation.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 340, doi. 10.1002/jimd.12712
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- Publication type:
- Article
Is SGSH heterozygosity a risk factor for early‐onset neurodegenerative disease?
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 763, doi. 10.1002/jimd.12359
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- Publication type:
- Article
Endo-lysosomal and autophagic dysfunction: a driving factor in Alzheimer's disease?
- Published in:
- Journal of Neurochemistry, 2017, v. 140, n. 5, p. 703, doi. 10.1111/jnc.13935
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- Publication type:
- Article
Low-dose, continuous enzyme replacement therapy ameliorates brain pathology in the neurodegenerative lysosomal disorder mucopolysaccharidosis type IIIA.
- Published in:
- Journal of Neurochemistry, 2016, v. 137, n. 3, p. 409, doi. 10.1111/jnc.13533
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- Publication type:
- Article
Regulation of N-Acetylgalactosamine 4-Sulfatase Expression in Retrovirus-Transduced Feline Mucopolysaccharidosis Type VI Muscle Cells.
- Published in:
- DNA & Cell Biology, 1999, v. 18, n. 3, p. 187, doi. 10.1089/104454999315402
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- Publication type:
- Article
Feline Mucopolysaccharidosis Type VI: Correction of Glycosaminoglycan Storage in Myoblasts by Retrovirus-Mediated Transfer of the Feline N-Acetylgalactosamine 4-Sulfatase Gene.
- Published in:
- DNA & Cell Biology, 1997, v. 16, n. 10, p. 1189, doi. 10.1089/dna.1997.16.1189
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- Publication type:
- Article
Development of a two-dimensional gel electrophoresis database of human lysosomal proteins.
- Published in:
- Electrophoresis, 1998, v. 19, n. 5, p. 834, doi. 10.1002/elps.1150190538
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- Publication type:
- Article
Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI.
- Published in:
- Journal of Gene Medicine, 2002, v. 4, n. 6, p. 613, doi. 10.1002/jgm.302
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- Publication type:
- Article
Mutational analysis of 105 mucopolysaccharidosis type VI patients.
- Published in:
- Human Mutation, 2007, v. 28, n. 9, p. 897, doi. 10.1002/humu.20534
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- 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
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- Publication type:
- Article
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy (Communicated by Andreas Gal).
- Published in:
- Human Mutation, 2004, v. 23, n. 3, p. 229, doi. 10.1002/humu.10313
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- Publication type:
- Article
Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
- Published in:
- Human Mutation, 2002, v. 19, n. 2, p. 184, doi. 10.1002/humu.9009
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- Publication type:
- Article
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
- Published in:
- Human Mutation, 2001, v. 18, n. 4, p. 264, doi. 10.1002/humu.1189
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- Publication type:
- Article
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.
- Published in:
- Human Mutation, 2001, v. 18, n. 4, p. 282, doi. 10.1002/humu.1190
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- Publication type:
- Article
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: Nine novel mutations including T312S, a common allele that confers a mild phenotype.
- Published in:
- Human Mutation, 1998, v. 11, n. 3, p. 202, doi. 10.1002/(SICI)1098-1004(1998)11:3<202::AID-HUMU4>3.0.CO;2-J
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- Publication type:
- Article
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).
- Published in:
- Human Mutation, 1997, v. 10, n. 6, p. 479, doi. 10.1002/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X
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- Publication type:
- Article
Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.
- Published in:
- Human Mutation, 1996, v. 7, n. 4, p. 361, doi. 10.1002/(SICI)1098-1004(1996)7:4<361::AID-HUMU12>3.0.CO;2-0
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- Publication type:
- Article
Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications.
- Published in:
- Human Mutation, 1995, v. 6, n. 4, p. 288, doi. 10.1002/humu.1380060403
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- Publication type:
- Article
Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 275, doi. 10.1002/humu.1380030316
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- Publication type:
- Article
Hunter syndrome: Gene deletions and rearrangements.
- Published in:
- Human Mutation, 1993, v. 2, n. 2, p. 138, doi. 10.1002/humu.1380020214
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- Publication type:
- Article
An N-acetylgalactosamine-4-sulfatase mutation (ΔG<sub>238</sub>) results in a severe Maroteaux-Lamy phenotype.
- Published in:
- Human Mutation, 1992, v. 1, n. 5, p. 397, doi. 10.1002/humu.1380010509
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- Publication type:
- Article
α-L-iduronidase mutations (Q<sub>70</sub>X and P<sub>533</sub>R) associate with a severe Hurler phenotype.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 333, doi. 10.1002/humu.1380010412
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- Publication type:
- Article
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
- Published in:
- Human Mutation, 1992, v. 1, n. 2, p. 103, doi. 10.1002/humu.1380010204
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- Publication type:
- Article
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1788, doi. 10.1002/humu.23613
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- Publication type:
- Article
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. E1574, doi. 10.1002/humu.21286
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- Publication type:
- Article
The ultrastructure of skin from a patient with mucopolysaccharidosis IIID.
- Published in:
- Acta Neuropathologica, 1997, v. 93, n. 2, p. 210, doi. 10.1007/s004010050605
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- Publication type:
- Article
Galsulfase.
- Published in:
- Nature Reviews Drug Discovery, 2006, v. 5, n. 2, p. 101, doi. 10.1038/nrd1962
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- Publication type:
- Article
Mucopolysaccharidosis VI in cats – clarification regarding genetic testing.
- Published in:
- BMC Veterinary Research, 2016, v. 12, p. 1, doi. 10.1186/s12917-016-0764-y
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- Publication type:
- Article
Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mapping.
- Published in:
- Mammalian Genome, 2000, v. 11, n. 6, p. 436, doi. 10.1007/s003350010083
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- Publication type:
- Article
Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α -l -iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 3, p. 291, doi. 10.1093/hmg/10.3.291
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- Publication type:
- Article
Novel Mutations in Sanfilippo a Syndrome: Implications for Enzyme function.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1573, doi. 10.1093/hmg/6.9.1573
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- Publication type:
- Article
Molecular Defects in Sanfilippo Syndrome Type A.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 5, p. 787, doi. 10.1093/hmg/6.5.787
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- Publication type:
- Article
Cloning and Expression of the Gene Involved in Sanfilippo B Syndrome (Mucopolysaccharidosis III B).
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 6, p. 771, doi. 10.1093/hmg/5.6.771
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- Publication type:
- Article