Results 151 to 160 of about 60,453 (247)

Long‐Term Follow‐Up of Patients With Transaldolase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Transaldolase (TALDO) deficiency has a well‐characterized phenotype. However, there are few large cohort studies, and little is known about the long term, including the need for organ transplantation. Our aim was to share a long multicenter experience in managing these patients.
M. Scaglione, A. Brassier, A. Wiedemann, I. Jankowska, J. Pawłowska, T. Lamireau, L. Bridoux‐Henno, C. Douillard, T. Casswall, U. Cucinotta, M. Gaschignard, P. Socha, F. Feillet, B. Fischler, D. Samara‐Boustani, M. C. Schiaffino, M. Schiff, P. De Lonlay, F. Lacaille   +18 more
wiley   +1 more source

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
A five generation family with a known pathogenic variant (c.1372C>T; p.Arg458*) in TSC2 displaying a severe renal phenotype characterized by large angiomyolipomas, renal cystic disease, and chronic kidney disease leading to renal failure. Our report illustrates a possible genotype–phenotype and highlights the importance of establishing genotype ...
Elena Tuller, Joshua A. Samuels, Hope Northrup, Kate Richardson   +3 more
wiley   +1 more source

Basement membrane remodeling with fibroblast activation and cystatin C aggregation in cerebral vessels of hereditary cystatin C amyloid angiopathy. [PDF]

Acta Neuropathol Commun
Snorradottir AO, Hafsteinsson HK, Hansdottir K, Ingthorsson S, Gudmundsson SR, Skodras A, Isaksson HJ, Hakonarson H.   +7 more
europepmc   +1 more source

Cystatin C Measurement [PDF]

, 2020
openaire   +1 more source

Integrative chromosome‐scale genome analysis of cupuassu provides insights into witches' broom disease resistance and expands genomic resources for Theobroma

The Plant Genome, Volume 19, Issue 1, March 2026.
Abstract Cupuassu (Theobroma grandiflorum) is a fruit tree native to the Brazilian Amazon and increasingly relevant to regional bioeconomies. Its cultivation is severely affected by witches’ broom disease (WBD), caused by Moniliophthora perniciosa. While a chromosome‐scale genome of the susceptible genotype C1074 is available, the lack of a resistant ...
Vinicius A. C. de Abreu, Rafael Moysés Alves, Mauro de Medeiros Oliveira, Vitor Trinca, Loeni Ludke Falcão, Lucilia Helena Marcellino, Antonio Figueira, Douglas S. Domingues, Alessandro M. Varani   +8 more
wiley   +1 more source

Comparison of Creatinine-, Cystatin C-, and Combined Creatinine-Cystatin C-Based Equations for Estimating Glomerular Filtration Rate: A Real-World Analysis in Patients with Chronic Kidney Disease. [PDF]

Int J Mol Sci
Osredkar J, Klemenčič I, Kumer K, Pajek J, Knap B.   +4 more
europepmc   +1 more source

Association Between NHHR and Future Cardiovascular Disease Among Patients With CKM Stages 0–3: A Nationwide Prospective Cohort Study

The Journal of Clinical Hypertension, Volume 28, Issue 3, March 2026.
ABSTRACT The American Heart Association recently proposed the concept of Cardiovascular‐kidney‐metabolic (CKM) syndrome, emphasizing the interconnections among cardiovascular disease (CVD), chronic kidney disease (CKD), and metabolic disorders. The ratio of non‐high‐density lipoprotein cholesterol to high‐density lipoprotein cholesterol (NHHR) has ...
Yu Huang, Yanwen Gao, Jiming Shao, Ke Wang, Yexiang Ma, Long Ai, Jing Yu   +6 more
wiley   +1 more source

The Effect of Periodontal Therapy on Renal Function and Diabetes Control in Patients With Chronic Kidney Disease. A Randomised Controlled Clinical Trial

Journal of Clinical Periodontology, Volume 53, Issue 3, Page 362-372, March 2026.
ABSTRACT Aim To investigate the effect of non‐surgical periodontal therapy (NSPT) on renal function and glycaemic control in chronic kidney disease (CKD) patients over a 6‐month observation period, through a randomised clinical trial (RCT). Materials and Methods A total of 53 patients participated: 27 in the intervention group (IG) and 26 in the ...
Spyridon K. Kouris, Yiorgos A. Bobetsis, Sophia Lionaki, Panagiotis N. Kanellopoulos, George Maropoulos, Panagiotis A. Koromantzos, Athanasios D. Protogerou, Phoebus N. Madianos   +7 more
wiley   +1 more source

Cystatin C prevents tissue injury after lung transplantation. [PDF]

Life Sci Alliance
Verma HK, Morrone C, Rehm SR, Jeridi A, Smirnova NF, Doryab A, Weiß SA, Dashkevich A, Schmid O, Mümmler C, Gerckens M, Conlon TM, Hecker M, Kneidinger N, Jenne DE, Yildirim AÖ.   +15 more
europepmc   +1 more source

Preserving Residual Kidney Function in Haemodialysis: Current Practices, Challenges, and Perspectives From Renal Clinicians

Journal of Renal Care, Volume 52, Issue 1, March 2026.
ABSTRACT Background Residual kidney function in patients receiving haemodialysis is associated with improved survival, reduced cardiovascular risk and better quality of life. Yet, clinical guidelines on its preservation are limited, and local practices remain unclear.
Lijun Zhong, Ulrich Steinwandel, Hugh Davies, Sara Bayes, Jagadish Jamboti, Hemant Kulkarni, Doris Chan   +6 more
wiley   +1 more source