Morphological changes and their associations with clinical parameters in children with nephropathic cystinosis and chronic kidney disease prior to kidney replacement therapy over 25 years. [PDF]
Pediatr NephrolBackground Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder, mostly and often firstly affecting the kidneys, together with impaired disharmonious growth and rickets, eventually resulting in progressive chronic kidney disease ...
Brügelmann M +19 more
europepmc +2 more sources
Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study. [PDF]
Front Med (Lausanne), 2022 Background Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disorder resulting in progressive chronic kidney disease (CKD) and a variety of extrarenal manifestations. This orphan disease remains a challenge for patients, their families
O'Connell N +14 more
europepmc +2 more sources
Muscle and Bone Impairment in Infantile Nephropathic Cystinosis: New Concepts. [PDF]
Cells, 2022 Cystinosis Metabolic Bone Disease (CMBD) has emerged during the last decade as a well-recognized, long-term complication in patients suffering from infantile nephropathic cystinosis (INC), resulting in significant morbidity and impaired quality of life ...
Haffner D +3 more
europepmc +2 more sources
Worldwide disparities in access to treatment and investigations for nephropathic cystinosis: a 2023 perspective. [PDF]
Pediatr Nephrol, 2023 Background Nephropathic cystinosis (NC) is a rare lysosomal disease, leading to early kidney failure and extra-renal comorbidities. Its prognosis strongly relies on early diagnosis and treatment by cysteamine.
Regnier M +8 more
europepmc +2 more sources
Phase 1 Renal Impairment Trial Results Supports Targeted Individualized Dosing of ELX-02 in Patients With Nephropathic Cystinosis. [PDF]
J Clin Pharmacol, 2021 Abstract The aim of this study was to assess the pharmacokinetics (PK) and safety of ELX‐02 in a renally impaired population and apply these findings to the individualized dosing of patients with nephropathic cystinosis. This phase 1 renal impairment (RI; mild, moderate, or severe), single‐dose, PK, and safety evaluation included 6 participants ...
Haverty T +6 more
europepmc +2 more sources
A Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia [PDF]
Cells, 2021 Alex Gonzalez +5 more
openalex +2 more sources
Pregnancy and Breastfeeding in Nephropathic Cystinosis With Native Kidneys. [PDF]
Kidney Int Rep, 2022 Chan L +6 more
europepmc +2 more sources
Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy [PDF]
Int J Mol Sci, 2020 Irma Machuca‐Gayet +6 more
openalex +2 more sources
Food Frontiers, Volume 4, Issue 4, Page 1578-1605, December 2023., 2023 As six novel woody crops, Paeonia suffruticosa, Plukenetia volubilis, Acer truncatum, Olea europaea, Camellia sinensis, and Camellia oleifera are characterized by high oil production, widespread cultivation, adaptability, low cost, and various active ingredients.
Lili Xu +13 more
wiley +1 more source
mTOR signaling in renal ion transport
Acta Physiologica, Volume 238, Issue 1, May 2023., 2023 Abstract The mammalian target of rapamycin (mTOR) signaling pathway is crucial in maintaining cell growth and metabolism. The mTOR protein kinase constitutes the catalytic subunit of two multimeric protein complexes called mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2).
Anastasia Adella, Jeroen H. F. de Baaij
wiley +1 more source