Results 71 to 80 of about 141,957 (168)

Consensus of Multidisciplinary Management on Hereditary Transthyretin Amyloidosis

罕见病研究
Hereditary transthyretin amyloidosis(ATTRv) is a rare autosomal dominant multisystem disease caused by pathogenic variations in the TTR gene, mainly affecting peripheral nerves, heart, digestive tract, eyes, kidneys, and leptomeninges, among others.
Rare Disease Branch of Chinese Medical Association, Rare Disease Branch of Beijing Medical Association   +1 more
doaj   +1 more source

From Single Cells to Diagnosis: Proteomics Technologies in the Multi‐Omics Landscape of Rare and Mitochondrial Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
Wetzel et al. outline how individual omics methods contribute to the diagnosis of patients with rare, and particularly mitochondrial diseases, with a focus on how spatial proteomics is joining this multi‐omics stack. ABSTRACT Proteomics by mass spectrometry has rapidly matured from a niche method into a standard tool.
Simon Wetzel, Sebastian Porsdam Mann, Florian A. Rosenberger   +2 more
wiley   +1 more source

Hereditary systemic transthyretin amyloidosis: a clinical case and an opinion on the problem [PDF]

, 2019
This article presents a clinical case of a patient with hereditary systemic hereditary transthyretin amyloidosis. Difficulties of diagnostics and differential diagnostics of this disease are shown in a patient with arterial hypertension, a clinic of ...
A. V. Soboleva, E. A. Polyakova, T. A. Galanskaya, E. V. Shlyakhto, A. S. Draganova, A. E. Ertman, D. V. Ryzhkova, E. I. Nikolaychuk   +7 more
core   +1 more source

Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis

, 2022
Hereditary transthyretin amyloidosis (hATTR) is caused by the mutations of the transthyretin (TTR) gene. Length dependent sensory-motor neuropathy with autonomic involvement is the hallmark of the disease. However, it can manifest with unusual phenotypes.
Atmaca, Murat Mert, Durmus, Hacer, Cakar, Arman, Oflazer, Piraye, Parman, Yesim, Kotan, Dilcan, Deymeer, Feza   +6 more
core   +1 more source

Hereditary Transthyretin Cardiac Amyloidosis With Severe Left Ventricular Outflow Tract Obstruction Mimicking Hypertrophic Obstructive Cardiomyopathy

JACC: Case Reports
Background: Cardiac amyloidosis may mimic hypertrophic cardiomyopathy; however, severe left ventricular outflow tract (LVOT) obstruction is rarely described in transthyretin (TTR) cardiac amyloidosis.
Batel Nissan, MD, Nur Magadale, MD, Vladimir Kaplinskiy, MD, Rabea Asleh, MD, PhD, Arthur Pollak, MD, Mordechai Golomb, MD   +5 more
doaj   +1 more source

A mutation in transthyretin gene in a Mexican patient leading to hereditary amyloidosis: a case report

Journal of Medical Case Reports
Background Transthyretin is a protein produced by the liver, and when normal, it carries out the role of transporting thyroid hormone and vitamin A in the body. Mutations in the gene that codes for this protein can cause it to misfold.
Muhammad Reebal Malik, Tarun Dalia, Zubair Shah   +2 more
doaj   +1 more source

Early‐Onset Wild‐Type Transthyretin Amyloidosis Polyneuropathy

Muscle &Nerve, Volume 74, Issue 5, Page 1471-1475, November 2026.
Chafic Karam, Kaylee Baker, Sami Khella, Brian Drachman, Pranav Chandrashekar, MacLean Nasrallah, Shunsuke Koga, Janice Pieretti   +7 more
wiley   +1 more source

Systemic Amyloidosis – Insights by Cardiovascular Magnetic Resonance [PDF]

, 2015
Systemic amyloidosis is the exemplar infiltrative, extracellular disease. Although it is a multi-organ disorder, cardiac involvement drives prognosis. Survival is worst in the AL amyloidosis subtype. It can affect any age and any race. There is no direct
Banypersad, SM
core  

Clinical case of hereditary transthyretin amyloidosis [PDF]

Българска кардиология
Transthyretin amyloidosis (ATTR) is a systemic disease characterized by the deposition of amyloid fi brils in various tissues, leading to progressive neurological manifestations and the development of cardiomyopathy, necessitating timely ...
N. Spasova, E. Kinova, R. Savova, K. Genova, M. Garcheva, A. Goudev   +5 more
doaj   +3 more sources

Patient with ATTR cardiac amyloidosis presenting with heart failure with reduced ejection fraction

Heart India
ATTR amyloidosis involving the heart solely despite it being a multisystem disease is quite an enigmatic entity. Here is a case of a 65-year-old man presenting with features of heart failure with reduced ejection fraction who on extensive workup and ...
Jay Gohri, Sudipta Rao, Shailesh Aggarwal   +2 more
doaj   +1 more source