Results 91 to 100 of about 16,120 (219)

Real‐World Diagnostic Workup of Patients Suspected for Light Chain Amyloidosis and Wild‐Type Transthyretin Amyloid Cardiomyopathy: A Retrospective Cohort Study Using US Electronic Health Records

eJHaem, Volume 7, Issue 3, June 2026.
ABSTRACT Introduction Light chain (AL) amyloidosis and transthyretin amyloid cardiomyopathy (ATTR‐CM) are the most common types of cardiac amyloidosis. Despite similar manifestations, prognosis and treatments are distinct, emphasizing the importance of accurate and timely diagnosis. This retrospective cohort study assessed real‐world diagnostic workups
Muhamed Baljevic, Haechung Chung, Jose Alvir, Patrick Feron, Aaron Crowley, Darrin Benjumea, Yong Chen, Cindi Pankratova   +7 more
wiley   +1 more source

Eprodisate for the treatment of renal disease in AA amyloidosis

, 2007
Background: Amyloid A (AA) amyloidosis is a complication of chronic inflammatory conditions that develops when proteolytic fragments of serum amyloid A protein (SAA) are deposited in tissues as amyloid fibrils.
Dember, L.M., Hazenberg, B.P.C., Garceau, D., Puéchal, X., Livneh, A., Lesnyak, O., Skinner, Martha, Lesnyak, Olga, Livneh, Avi, Butrimiene, I., Merlini, G., Hauck, Wendy, Obici, L., Dember, Laura M., Gorevic, Peter D., Skinner, M., Butrimiene, Irena, Hawkins, Philip N., Balshaw, Robert, Hazenberg, Bouke P. C.; id_orcid, Lachmann, Helen J., Obici, Laura, Gorevic, P.D., Puechal, Xavier, Hazenberg, Bouke P. C., Hawkins, P.N., Garceau, Denis, Balshaw, R., Lachmann, H.J., Merlini, Giampaolo, Hauck, W.   +30 more
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Hepatic Monoclonal Light‐ and Heavy‐Chain Deposition Disease Presenting as Noncirrhotic Portal Hypertension With Ascites

Liver International Communications, Volume 7, Issue 2, June 2026.
ABSTRACT Monoclonal immunoglobulin deposition disease (MIDD) is a plasma cell disorder where immunoglobulin light‐ and/or heavy‐chains accumulate in various organs. Hepatic involvement can be challenging to diagnose, as manifestations are protean and Congo red staining is negative.
Bella L. Liu, Helmut G. Rennke, Lei Zhao, Kayla R. Elliott, Yuxin Liu, Stephen D. Zucker   +5 more
wiley   +1 more source

Portuguese‐type amyloidosis (transthyretin amyloidosis, ATTR V30M). [PDF]

, 2003
J Nephrol. 2003 May-Jun;16(3):438-42. Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). Lobato L. SourceDepartment of Nephrology, Santo António General Hospital, Porto, Portugal.
Lobato, L.
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Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation

, 2020
Hereditary transthyretin amyloidosis is a rare progressive systemic disease. We describe a physically active 46-year-old man who presented with dyspnoea on exertion.
Szabó, Barna,, Björkenheim, Anna,, Sztaniszláv, Áron József,   +2 more
core   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

Protein mis-folding and human disease

, 2010
Serum Amyloid P Component (SAP), a putative molecular chaperone, is a homopentamericplasma protein of 25kDa subunits. It binds to the amyloid fibrils ofmisfolded proteins, which cause amyloidosis in humans. SAP not only stabilizesamyloid fibrils but also
Pal, Mohinder
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Transthyretin mutation and cardiac amyloidosis

, 2022
a novel transthyretin mutation D39Y in a cardiac amyloidosis patient and its biochemical characterizations.THIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE HERE.
张, 宁 (via Mendeley Data)
core   +1 more source

Evaluation of the Current ATTR‐CM Treatment Landscape via a Mathematical Model of TTR Dissociation and Amyloid Formation

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 6, June 2026.
ABSTRACT Transthyretin amyloid cardiomyopathy (ATTR‐CM) is a progressive, often fatal disease arising from the dissociation of circulating transthyretin (TTR) tetramers into monomers that misfold and form amyloid fibrils that deposit in the myocardium and other tissues. Approved treatment paradigms involve tetramer stabilization with small molecules or
Stevan Methven Jeknić, Travis A. Ahn‐Horst, Alan X. Ji, Jin Hyun Ju, Morgan Paull, Sun‐Gou Ji, Uma Sinha   +6 more
wiley   +1 more source

Erythropoietin in Familial Amyloidosis ATTR V30M

, 2013
Familial amyloidosis ATTR V30M is an hereditary disorder, the most frequent type of transthyretin related amyloidosis. The main manifestation of the disease is a sensory-motor and autonomic polyneuropathy.
Costa, P.P., Beirão, I.
core   +1 more source