Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea

scientific article published on 31 December 2012

Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea is …
instance of (P31):
scholarly articleQ13442814
case reportQ2782326

External links are
P356DOI10.4250/JCU.2012.20.4.209
P932PMC publication ID3542517
P698PubMed publication ID23346293
P5875ResearchGate publication ID235368837

P2093author name stringDong Heon Yang
Shung Chull Chae
Yongkeun Cho
Hun Sik Park
Jang Hoon Lee
Myung Hwan Bae
Hyun Jun Cho
Jae Yong Yoon
Jae Eun Jun
P2860cites workClinical variability in type I familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal.Q52805292
Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies?Q56997313
A new amyloidogenic transthyretin variant, [D38A], detected by electrospray ionization / mass spectrometryQ58276742
Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patientsQ70173904
Clinical significance of histopathologic patterns of cardiac amyloidosisQ71436818
Noninvasive diagnosis of biopsy-proven cardiac amyloidosisQ79761534
A primer of amyloid nomenclatureQ28241008
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathyQ30829268
Diagnosis and management of the cardiac amyloidosesQ34454122
Familial transthyretin-type amyloid polyneuropathy in Japan: clinical and genetic heterogeneity.Q34592571
Molecular mechanisms of amyloidosisQ35194628
Hereditary transthyretin amyloidosis from a Scandinavian perspective.Q35203818
Transthyretin-related familial amyloidotic polyneuropathyQ36189972
Amyloidosis and the heart: a comprehensive reviewQ36603755
The molecular biology and clinical features of amyloid neuropathyQ36842534
Amyloid heart diseaseQ37683040
The systemic amyloidosesQ41596634
Phenotypic expression of familial amyloid polyneuropathy in Brazil.Q42652254
Amyloid fibril protein nomenclature -- 2002.Q48728084
Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38AlaQ49129290
P275copyright licenseCreative Commons Attribution-NonCommercial 3.0 UnportedQ18810331
P6216copyright statuscopyrightedQ50423863
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectdiarrheaQ40878
transthyretin amyloidosisQ2844603
P304page(s)209-212
P577publication date2012-12-31
P1433published inJournal of Cardiovascular UltrasoundQ26842465
P1476titleFamilial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea
P478volume20

Reverse relations

cites work (P2860)
Q41490359Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis
Q92885198Orthostatic hypotension in hereditary transthyretin amyloidosis: epidemiology, diagnosis and management

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