Found: 25
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Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings.
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- Journal of Cutaneous Pathology, 2022, v. 49, n. 3, p. 293, doi. 10.1111/cup.14154
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- Article
Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brain.
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- Journal of Pathology, 2003, v. 200, n. 1, p. 104, doi. 10.1002/path.1320
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- Article
Intracellular transport of acid β-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation).
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- Journal of Pathology, 1999, v. 188, n. 4, p. 407, doi. 10.1002/(SICI)1096-9896(199908)188:4<407::AID-PATH377>3.0.CO;2-Z
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- Article
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?
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- Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0646-6
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- Article
The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells.
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- Oncogene, 2001, v. 20, n. 45, p. 6493, doi. 10.1038/sj.onc.1204841
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- Article
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature.
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 292, doi. 10.1002/jmd2.12293
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- Article
Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 80, doi. 10.1002/jmd2.12189
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- Article
Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin.
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- Acta Neuropathologica, 2007, v. 113, n. 2, p. 163, doi. 10.1007/s00401-006-0148-7
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- Article
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1298, doi. 10.1002/jimd.12298
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- Article
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 849, doi. 10.1007/s10545-016-9961-x
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- Article
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 1, p. 69, doi. 10.1007/s10545-009-9018-5
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- Article
Synthesis of 8-Ribofuranosyl- and 2-Ribofuranosylamino-7-oxo-7,8-dihydropteridines.
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- Angewandte Chemie International Edition, 1971, v. 10, n. 12, p. 927, doi. 10.1002/anie.197109271
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- Article
Synthesis of Lumazine and Isopterin N-1-β- D-Ribofuranosides and -(2-Deoxyribofuranosides)-Structural Analogs of Uridine, Cytidine, and Thymidine.
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- Angewandte Chemie International Edition, 1971, v. 10, n. 12, p. 932, doi. 10.1002/anie.197109321
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- Article
Coincidence of Gaucher's disease due to a private mutation and Ph′ positive chronic myeloid leukemia.
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- American Journal of Hematology, 1998, v. 59, n. 1, p. 87, doi. 10.1002/(SICI)1096-8652(199809)59:1<87::AID-AJH17>3.0.CO;2-Z
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- Article
Ultrastructural Pathology of Eccrine Sweat Gland Epithelial Cells in Globoid Cell Leukodystrophy.
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- Journal of Child Neurology, 1993, v. 8, n. 2, p. 171, doi. 10.1177/088307389300800211
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- Article
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells.
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- Human Mutation, 2017, v. 38, n. 11, p. 1511, doi. 10.1002/humu.23306
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- Article
Lysosomale Speicherkrankheiten.
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- Der Pathologe, 2015, v. 36, n. 5, p. 485, doi. 10.1007/s00292-015-0053-8
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- Article
Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann–Pick type C patients but also patients possibly affected with other lipid trafficking disorders
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- FEBS Letters, 2003, v. 537, n. 1-3, p. 177, doi. 10.1016/S0014-5793(03)00100-5
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- Article
Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue.
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- Biological Chemistry, 2019, v. 400, n. 6, p. 745, doi. 10.1515/hsz-2018-0438
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- Article
High β-glucosidase (GBA) activity not attributable to GBA1 and GBA2 in live normal and enzymedeficient fibroblasts may emphasise the role of additional GBAs.
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- Biological Chemistry, 2015, v. 396, n. 11, p. 1241, doi. 10.1515/hsz-2015-0144
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- Article
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
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- Human Mutation, 2002, v. 19, n. 1, p. 30, doi. 10.1002/humu.10016
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- Article
Synthese und Eigenschaften von Isopterinnucleosiden - Strukturanaloga des Cytidins. Nucleoside, X [1].
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- Helvetica Chimica Acta, 1973, v. 56, n. 4, p. 1225, doi. 10.1002/hlca.19730560407
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Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity.
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- Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 307, doi. 10.1159/000112178
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- Article
Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis.
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- Journal of Neuroscience, 2013, v. 33, n. 25, p. 10195, doi. 10.1523/JNEUROSCI.0822-13.2013
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- Article
Further Evidence that Human Lysosomal Sialidase is not Derived from Prosaposin. Prosaposin Biosynthesis and Ganglioside Sialidase Studies in Prosaposin- and Sialidase-Deficient Fibroblast Lines.
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- Biological Chemistry, 1994, v. 375, n. 1, p. 25
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- Article