Found: 10
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Ichthyosis: The Skin Manifestation of Multiple Sulfatase Deficiency.
- Published in:
- Pediatric Dermatology, 1997, v. 14, n. 5, p. 369, doi. 10.1111/j.1525-1470.1997.tb00984.x
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- Publication type:
- Article
New synthesis of cyclic AMP-dependent protein kinases during liver regeneration.
- Published in:
- Cell Biochemistry & Function, 1988, v. 6, n. 3, p. 203, doi. 10.1002/cbf.290060309
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- Publication type:
- Article
Identification of lysosomal Npc1-binding proteins: Cathepsin D activity is regulated by NPC1.
- Published in:
- Proteomics, 2016, v. 16, n. 1, p. 150, doi. 10.1002/pmic.201500110
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- Publication type:
- Article
Natural history of Sanfilippo syndrome in Spain.
- Published in:
- 2013
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- Publication type:
- journal article
Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.
- Published in:
- Pediatric Transplantation, 2018, v. 22, n. 7, p. N.PAG, doi. 10.1111/petr.13278
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- Publication type:
- Article
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
- Published in:
- Human Mutation, 2009, v. 30, n. 11, p. E993, doi. 10.1002/humu.21119
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- Publication type:
- Article
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
- Published in:
- Human Mutation, 2006, v. 27, n. 10, p. 1060, doi. 10.1002/humu.9451
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- Publication type:
- Article
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.
- Published in:
- Human Mutation, 1998, v. 12, n. 4, p. 274, doi. 10.1002/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F
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- Publication type:
- Article
Equipos de Atención Primaria autogestionados, ¿utopía o visión de futuro?
- Published in:
- AMF: Actualización en Medicina de Familia, 2014, v. 10, n. 1, p. 12
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- Publication type:
- Article
The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.
- Published in:
- FEBS Journal, 2014, v. 281, n. 19, p. 4450, doi. 10.1111/febs.12954
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- Publication type:
- Article