The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP‐met30)
Abstract
Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant inherited disorder characterized by progressive peripheral and autonomic neuropathy, associated with neural and systemic amyloid deposits. The amyloid fibrils contain a variant transthyretin (TTR) molecule (TTR met30), over 90% of which is produced in the liver. After liver transplantation in two patients with severe symptomatic FAP, only normal TTR was detectable in circulation. The two patients are being monitored at regular intervals, and, although in one patient there was no evidence of reduction in the quantity of amyloid present at 6 months, there had been no further progression of the neuropathy.
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Cites
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Self-citationAmyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.
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HEART-LIVER TRANSPLANTATION IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLAEMIA
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Cited by
Safety and efficacy of RNAi therapy for transthyretin amyloidosis
Coelho, T., Adams, D., Silva, A., Lozeron, P., Hawkins, P. N., Mant, T., Perez, J., Chiesa, J., Warrington, S., Tranter, E., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1208760 · Cited by 971
Self-citationHolmgren, G., Steen, L., Suhr, O., Ericzon, B.-G., Groth, C.-G., Andersen, O., Wallin, B. G., Seymour, A., Richardson, S., Hawkins, P. N., et al. (1993) · The Lancet · doi:10.1016/0140-6736(93)93127-m · Cited by 579
Self-citationThe molecular biology and clinical features of amyloid neuropathy
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Targeting protein aggregation for the treatment of degenerative diseases
Eisele, Y. S., Monteiro, C., Fearns, C., Encalada, S. E., Wiseman, R. L., Powers, E. T., & Kelly, J. W. (2015) · Nature Reviews Drug Discovery · doi:10.1038/nrd4593 · Cited by 419
Suhr, O. B., Coelho, T., Buades, J., Pouget, J., Conceicao, I., Berk, J., Schmidt, H., Waddington-Cruz, M., Campistol, J. M., Bettencourt, B. R., et al. (2015) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-015-0326-6 · Cited by 321
Metadata
- Authors
- Holmgren, G., Steen, L., Ekstedt, J., Groth, C., Ericzon, B. ‐., Eriksson, S., Andersen, O., Karlberg, I., Nordén, G., Nakazato, M., Hawkins, P., Richardson, S., & Pepys, M.
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 1991-09
- Volume
- 40
- Issue
- 3
- Pages
- 242-246
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2138666552
- Cited by
- 396
- References
- 7
- FWCI
- 1.40
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP‐met30). https://app.cochat.ai/papers/10.1111/j.1399-0004.1991.tb03085.x
- The paper
- Holmgren, G., Steen, L., Ekstedt, J., Groth, C., Ericzon, B. ‐., Eriksson, S., Andersen, O., Karlberg, I., Nordén, G., Nakazato, M., Hawkins, P., Richardson, S., & Pepys, M. (1991). Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP‐met30). Clinical Genetics. https://doi.org/10.1111/j.1399-0004.1991.tb03085.x
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
