A new diagnostic procedure to detect unknown transthyretin (TTR) mutations in familial amyloidotic polyneuropathy (FAP). (Q54128037)

25 May 2018

title

A new diagnostic procedure to detect unknown transthyretin (TTR) mutations in familial amyloidotic polyneuropathy (FAP). (English)

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25 May 2018

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Yamashita T

1

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25 May 2018

Ando Y

2

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Bernt Suhr O

3

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Nakamura M

4

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Sakashita N

5

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Ohlsson PI

6

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Terazaki H

7

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25 May 2018

Obayashi K

8

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25 May 2018

Uchino M

9

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Ando M

10

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publication date

1 February 2000

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25 May 2018

Journal of the Neurological Sciences

number of pages

6

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based on heuristic

inferred from page(s)

published in

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25 May 2018

volume

173

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issue

2

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page(s)

154-159

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Amyloid deposits and amyloidosis: the beta-fibrilloses (second of two parts).

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Role of variant prealbumin in the pathogenesis of familial amyloidotic polyneuropathy: fate of normal and variant prealbumin in the circulation

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Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis

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Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)

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Treatment of a Japanese Patient with Familial Amyloidotic Polyneuropathy with Orthotopic Liver Transplantation

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A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves

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Polymorphism of human plasma thyroxine binding prealbumin.

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Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences

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Simple detection of abnormal serum transthyretin from patients with familial amyloidotic polyneuropathy by high-performance liquid chromatography/electrospray ionization mass spectrometry using material precipitated with specific antiserum

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A New Simple and Rapid Screening Method for Variant Transthyretin-Related Amyloidosis

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7 January 2021

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10.1016/S0022-510X(99)00326-3

7 January 2021

Identifiers

DOI

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25 May 2018

PubMed ID

10675660

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25 May 2018