Results 41 to 50 of about 6,803 (205)
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]
PLoS ONE, 2015 Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara +5 more
doaj +1 more source
Difficulties in differentiating thin basement membrane disease from Alport syndrome
, 2016 We examined a group of 83 patients (57 children and 26 adults) with thin basement membrane disease and 17 patients with Alport syndrome. We compared the clinical data and, above all, the morphological patterns of both disease entities, with particular ...
Aldona Woźniak +6 more
core +1 more source
Expert consensus guidelines for the genetic diagnosis of Alport syndrome. [PDF]
, 2018 peer reviewedRecent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments.
Gale, Daniel P. +17 more
core +3 more sources
Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5
Frontiers in Genetics, 2023 Alport syndrome (#308940) is an X-linked genetic disease with clinical manifestations, such as hematuria, proteinuria, renal insufficiency, and end-stage renal disease.
Shujun Pan, Rizhen Yu, Shikai Liang
doaj +1 more source
A family with Alport’s syndrome [PDF]
Postgraduate Medical Journal, 1970 SummaryAlport’s syndrome has been diagnosed in members of four successive generations of one family.Renal biopsy was performed in two of these patients. The syndrome is briefly reviewed.
openaire +2 more sources
Simultaneous Bilateral Anterior and Posterior Lenticonus in Alport Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2017 Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities like anterior lenticonus, corneal opacities, cataract, central perimacular and peripheral coalescing fleck retinopathies, and ...
Ravi Kant Bamotra +3 more
doaj +1 more source
Advanced Science, EarlyView.Mesenchymal stromal cells (MSCs) show promise for treating immune‐related disorders through immunomodulation and tissue regeneration. This review gives a brief overview of current clinical approval of MSC therapies. It also discussed how bioengineering, including genetic modification, biomaterial delivery, extracellular vesicles, and iPSC‐derived MSCs,
Sichen Yang +6 more
wiley +1 more source
Bilateral anterior lenticonus associated with Alport syndrome
, 2021 Anterior lenticonus is a rare congenital anomaly of the eye characterized by a conical protrusion of the crystalline lens capsule and the underlying cortex in anterior chamber leading to high axial myopia; most cases are associated with Alport syndrome ...
Divyang Patel, Naurin Memon, Kavita Shah
core +1 more source
Characterization of the eye phenotype in children with Alport syndrome [PDF]
, 2022 The objective of this dissertation was to characterize the ocular changes in pediatric Alport patients of the EARLY PRO-TECT Alport trial. The EARLY PRO-TECT Alport trial examined the safety and efficacy of angiotensin converting enzyme inhibitors as an ...
Großmann, Clara Berenice Juliane
core +1 more source
Nephrotic Syndrome in a Child with Alport Syndrome: A Case Report and Literature Review
Journal of Gandhara Medical and Dental Sciences: Alport syndrome is a disorder affecting basement membranes in the glomeruli, cochlea, and eyes due to mutations in collagen IV genes (COL4A3, COL4A4, COL4A5).
syed shah
doaj +1 more source