Results 41 to 50 of about 2,138 (167)
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
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Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio +7 more
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Oxalosis and Livedo Reticularis
Actas Dermo-Sifiliográficas (English Edition), 2013 Oxalosis is a disease caused by the deposition of calcium oxalate in extrarenal tissues, most commonly bone, myocardium, retina, blood vessels, and skin, causing the clinical manifestations of the disease. Involvement of the blood vessels of the skin can give rise to livedo reticularis, acrocyanosis, ulcers, and gangrene.
E, Jorquera-Barquero +3 more
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Engineering Reports, Volume 7, Issue 1, January 2025.In this work, we develop an interactive pipeline for geometry preparation of moving mesh simulations of cardiac hemodynamics. The open source tool is easy to use and can be seamlessly integrated into downstream CFD workflows. ABSTRACT Blood flow within the ventricle can provide important information on the performance of the heart. The determined blood
Jan‐Niklas Thiel +7 more
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Systemic Oxalosis in Infants: Two Cases and Literature Review
Turkish Journal of Nephrology, 2019 The infantile form of primary hyperoxaluria is a very rare disease and often presents as a lifethreatening condition because of rapid progression to end-stage renal disease and systemic oxalosis.
Zübeyde GÜNDÜZ +5 more
doaj
Aspergillus tubingensis: A Rare Fungal Pathogen Complicating COVID‐19 Case
Case Reports in Infectious Diseases, Volume 2025, Issue 1, 2025.Background Coronavirus disease 2019 (COVID‐19) has been associated with invasive fungal infection. Several COVID‐19 cases were complicated due to coinfection with Aspergillus, Rhizopus, and Mucor species. We present COVID‐19 with Aspergillus tubingensis coinfection.
Aiah M. Khateb +7 more
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Accelerated Oxalosis Contributing to Delayed Graft Function after Renal Transplantation
Case Reports in Transplantation, 2019 Hyperoxaluria is an important and underrecognized cause for allograft dysfunction and loss after transplantation. It is potentially treatable if recognized in a timely fashion.
Yvelynne P. Kelly +2 more
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Clinical Case Reports, Volume 12, Issue 12, December 2024.ABSTRACT Patients with end‐stage renal disease (ESRD) undergoing chronic hemodialysis are at an increased risk of developing spondylodiscitis, an infectious condition affecting the vertebral column. In this case report, we present a 22‐year‐old male with ESRD, a history of hyperoxaluria, nephrolithiasis, and anemia, who developed spondylodiscitis ...
Parisa Mehrasa +3 more
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British Journal of Clinical Pharmacology, Volume 90, Issue 12, Page 3176-3189, December 2024.Abstract Aim To characterize pharmacokinetic and pharmacodynamic profiles of nedosiran in patients with primary hyperoxaluria type 1 (PH1), identify influential covariates and confirm therapeutic doses. Methods A population pharmacokinetic (PK)/pharmacodynamic (PD) (POP‐PKPD) model was developed to characterize the concentration‐time course of ...
Steven Zhang +6 more
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