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PEDIATRIC RHEUMATOLOGY, ISSN 1546-0096, 05/2019, Volume 17, Issue 1, pp. 22 - 22
Journal Article
ALLERGY ASTHMA AND CLINICAL IMMUNOLOGY, ISSN 1710-1492, 01/2019, Volume 15, Issue 1, pp. 1 - 5
Journal Article
Amyloid, ISSN 1350-6129, 07/2019, Volume 26, Issue 3, pp. 118 - 124
Objectives: Previous clinical studies have shown frequent cardiac symptoms in patients with hereditary gelsolin (AGel) amyloidosis, possibly related to amyloid... 
hereditary amyloidosis | AGel | Meretoja disease | Gelsolin | heart | MEDICINE, RESEARCH & EXPERIMENTAL | TRANSTHYRETIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | INVOLVEMENT | BIOPSY | FEATURES | MEDICINE, GENERAL & INTERNAL | FINNISH-TYPE | FAMILIAL AMYLOIDOSIS | DYSTROPHY | MUTATION | Index Medicus
Journal Article
Kidney International, ISSN 0085-2538, 09/2019, Volume 96, Issue 3, pp. 628 - 641
Amyloidoses are rare life-threatening diseases caused by protein misfolding of normally soluble proteins. The fatal outcome is predominantly due to renal... 
mouse model | glomerular amyloid deposits | hereditary systemic amyloidosis | Life Sciences | Human health and pathology
Journal Article
Experimental Eye Research, ISSN 0014-4835, 09/2019, Volume 186, pp. 107715 - 107715
The International Committee for Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy which are... 
endothelial corneal dystrophy | cornea | genetic eye diseases | corneal dystrophy | stromal corneal dystrophy | hereditary eye diseases | epithelial corneal dystrophy | Index Medicus
Journal Article
Amyloid, ISSN 1350-6129, 07/2019, Volume 26, Issue 3, pp. 103 - 111
Timely diagnosis of hereditary variant transthyretin (ATTRv) amyloidosis is critical for appropriate treatment and optimal outcomes. Significant differences... 
follow-up | amyloidosis | transthyretin | progression | hereditary | monitoring | ATTR | MEDICINE, RESEARCH & EXPERIMENTAL | POLYNEUROPATHY | NERVES | BIOCHEMISTRY & MOLECULAR BIOLOGY | VALIDATION | ELECTROCHEMICAL SKIN-CONDUCTANCE | MEDICINE, GENERAL & INTERNAL | NEUROPATHY | TAFAMIDIS | CORNEAL CONFOCAL MICROSCOPY | DYSFUNCTION | Index Medicus
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 08/2019, Volume 403, pp. 1 - 6
Despite growing numbers of patients diagnosed with late-onset hereditary ATTR V30M amyloidosis with polyneuropathy (ATTRv-PN), this condition remains poorly... 
Hereditary transthyretin amyloidosis | Early-onset ATTRv-PN | Polyneuropathy | Late-onset ATTRv-PN | Familial amyloid polyneuropathy
Journal Article
BMC nephrology, 08/2019, Volume 20, Issue 1, pp. 310 - 310
BACKGROUNDLysozyme amyloidosis is a rare hereditary systemic amyloidosis with amyloid deposits in various tissues leading to progressive organ failure. It has... 
Index Medicus | Chinese | Lysozyme amyloidosis | Renal involvement | Hereditary systemic amyloidosis | P.Trp82Arg
Journal Article
EXPERT REVIEW OF CLINICAL PHARMACOLOGY, ISSN 1751-2433, 08/2019, Volume 12, Issue 8, pp. 701 - 711
Introduction: Hereditary transthyretin-mediated amyloidosis (ATTRv; v for variant) is an underdiagnosed, progressive, and fatal multisystemic disease with a... 
STABILIZES HUMAN TRANSTHYRETIN | LIVER-TRANSPLANTATION | MANAGEMENT | EFFICACY | transthyretin | peripheral neuropathy | AMYLOIDOGENESIS | CARRIERS | ribonucleic acid interference | Hereditary transthyretin-mediated amyloidosis | TAFAMIDIS | inotersen | PHARMACOLOGY & PHARMACY | cardiomyopathy | PROGRESSION | MANIFESTATIONS
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 08/2019, Volume 495, pp. 123 - 128
Titin, encoded by the gene , is the largest human protein, and plays central roles in sarcomeric structures and functions in skeletal and cardiac muscles.... 
Urinary titin fragment | Dilated cardiomyopathy | Titin | Cardiomyopathy | Muscular dystrophy | HEREDITARY MYOPATHY | PHENOTYPE | IDENTIFICATION | TTN | CARDIAC INVOLVEMENT | GENETIC-VARIATION | FRAGMENT | MEDICAL LABORATORY TECHNOLOGY | C-TERMINAL TITIN | TRUNCATING MUTATIONS | ONSET | Heart diseases
Journal Article
Journal Article
Hautarzt, ISSN 0017-8470, 2019
Schnitzler syndrome is a very rare acquired systemic disease with many similarities to hereditary autoinflammatory syndromes. The main characteristics are... 
Urticarial rash | Hereditary autoinflammatory syndrome | Interleukin-1 | Anakinra | Systemic disease
Journal Article