Found: 16
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Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.
- Published in:
- FASEB Journal, 2017, v. 31, n. 12, p. 5495, doi. 10.1096/fj.201700565R
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- Publication type:
- Article
Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy.
- Published in:
- 2008
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- Publication type:
- Letter
Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.
- Published in:
- 2008
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- Publication type:
- Report
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
- Published in:
- Nature Genetics, 2013, v. 45, n. 3, p. 299, doi. 10.1038/ng.2543
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- Publication type:
- Article
Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
- Published in:
- Virchows Archiv: European Journal of Pathology, 2008, v. 452, n. 6, p. 651
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- Publication type:
- Article
Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease.
- Published in:
- Glycobiology, 2012, v. 22, n. 5, p. 725, doi. 10.1093/glycob/cws050
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- Publication type:
- Article
Autosomal dominant tubulointerstitial kidney disease: A review.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 3, p. 309, doi. 10.1002/ajmg.c.32008
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- Publication type:
- Article
Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.
- Published in:
- 2016
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- Publication type:
- journal article
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.
- Published in:
- Kidney International, 2005, v. 68, n. 4, p. 1472, doi. 10.1111/j.1523-1755.2005.00560.x
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- Publication type:
- Article
Adipocytes participate in storage in α‐galactosidase deficiency (Fabry disease).
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 297, doi. 10.1007/s10545-010-9160-0
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- Publication type:
- Article
Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease).
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. S297, doi. 10.1007/s10545-010-9160-0
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- Publication type:
- Article
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 69, doi. 10.1007/s10545-009-9018-5
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- Publication type:
- Article
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 336, doi. 10.1093/brain/awu355
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- Publication type:
- Article
Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1662, doi. 10.1002/humu.24072
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- Publication type:
- Article
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 18, p. 4062, doi. 10.1093/hmg/ddw245
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- Publication type:
- Article
Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens.
- Published in:
- Histopathology, 2012, v. 60, n. 7, p. 1107, doi. 10.1111/j.1365-2559.2011.04164.x
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- Publication type:
- Article