Hyaline fibromatosis syndrome: A rare inherited disorder [PDF]
Indian Journal of Dermatology, 2016 Hyaline fibromatosis syndrome (HFS) is rare autosomal recessive disease characterized by the deposition of amorphous hyaline material in skin and visceral organs.
Meeta Dipak Mantri +3 more
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COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report [PDF]
Frontiers in NeurologyIntroductionCOG5-related congenital disorder of glycosylation (COG5-CDG) is a rare autosomal recessive metabolic disorder with variable neurologic and ophthalmologic involvement.
Katherine Granger +10 more
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Egyptian Journal of Medical Human Genetics, 2014 Background: Mucopolysaccharidosis (MPS) are classified into seven clinical types based on eleven known lysosomal enzyme deficiencies of glycosaminoglycan (GAG) metabolism.
Mona M. El Falaki +4 more
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Curcumin–Copper Complex Nanoparticles for the Management of Triple-Negative Breast Cancer
Nanomaterials, 2018 Breast cancer is the most common cancer diagnosed among females worldwide. Although breast cancer survival has largely improved in the past 30 years, it remains highly heterogeneous in its response to treatment.
Khaled Greish +10 more
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Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations
Orphanet Journal of Rare Diseases, 2023 Background Inherited Metabolic Disorders (IMDs) are rare diseases where one impaired protein leads to a cascade of changes in the adjacent chemical conversions.
Denise N. Slenter +5 more
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Inherited Hyperuricemic Disorders [PDF]
, 2004 Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature.
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Congenital disorders in the cattle population of the Czech Republic
Czech Journal of Animal Science, 2009 The aim of the paper was to analyse congenital disorders in the Czech cattle population in 1986-2001. The offspring of 474 sires - 215 Czech Simmental, 236 Holstein, and 23 beef - were diagnosed with congenital disorders which were unevenly distributed ...
J. Čítek, V. Řehout, J. Hájková
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Thrombosis in Inherited Fibrinogen Disorders [PDF]
Transfusion Medicine and Hemotherapy, 2017 Although inherited fibrinogen disorders (IFD) are primarily considered to be bleeding disorders, they are associated with a higher thrombotic complication risk than defects in other clotting factors. Managing IFD patients with thrombosis is challenging as anticoagulant treatment may exacerbate the underlying bleeding risk which can be life-threatening.
Korte, Wolfgang +3 more
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A Rare Case of Epidermodysplasia Verruciformis with Non Syndromic Hearing Loss [PDF]
Journal of Clinical and Diagnostic ResearchThe onset of Non Syndromic Hearing Loss (NSHL) typically occurs without any other symptoms and can vary from person to person, even within the same family. Hearing loss can be unilateral or bilateral and can range from mild to profound degrees of hearing
Soham Meghe +3 more
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Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives
Clinical Ophthalmology, 2023 Ali Osman Saatci,1 Ferdane Ataş,2 Gökhan Ozan Çetin,3 Mustafa Kayabaşı1 1Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey; 2Department of Ophthalmology, Çerkezköy State Hospital, Tekirdağ, Turkey; 3Department
Saatci AO +3 more
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