Results 31 to 40 of about 5,436 (204)

Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report [PDF]

Journal of Medical Case Reports, 2009
Introduction We report an unusual and interesting case of a 24-year-old woman with nephropathic cystinosis in association with concomitant isolated noncompaction of the left ventricle. Left ventricular noncompaction usually presents with reduced exercise
Ahmed Ibrar, Phan Thanh, Lipkin Graham W, Frenneaux Michael   +3 more
doaj   +6 more sources

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation [PDF]

Cells, 2021
Thomas Quinaux, Aurélia Bertholet‐Thomas, Aude Servais, Olivia Boyer, Isabelle Vrillon, Julien Hogan, Sandrine Lemoine, Ségolène Gaillard, Candide Alioli, Sophie Vasseur, Cécile Acquaviva, Olivier Peyruchaud, Irma Machuca‐Gayet, Justine Bacchetta   +13 more
openalex   +2 more sources

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis [PDF]

Br J Ophthalmol, 2021
Leonie Keidel, Katharina Hohenfellner, Benedikt Schworm, Siegfried Priglinger, Nikolaus Luft, Claudia Priglinger   +5 more
openalex   +2 more sources

Nephrogenic Diabetes Insipidus in a 10-mo-old Infant: Complication of Nephropathic Cystinosis [PDF]

Indian Journal of Pediatrics, 2023
Ankur Singh, Raghvendra Patel, Abhishek Abhinay, Rajniti Prasad, Deepak Mishra, Om P. Mishra   +5 more
openalex   +2 more sources

Nephropathic cystinosis: pathophysiology and effects of treatment [PDF]

Clinical pharmacology and therapy, 2023
Nephropathic cystinosis is a rare inherited disease characterized by cristallization of cystine in lyzosomes. Cystine accumulation is caused by the mutations in the CTNS gene encoding for cystinosine, a cystine transporter.
N. Chebotareva, S. Moiseev
openalex   +2 more sources

The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: a retrospective study. [PDF]

Pediatr Nephrol, 2023
Nephropathic cystinosis is a rare lysosomal storage disorder in which accumulation of cystine and formation of crystals particularly impair kidney function and gradually lead to multi-organ dysfunction. Lifelong therapy with the aminothiol cysteamine can
Bjerre A, Aase SA, Radtke M, Siva C, Gudmundsdottir H, Forsberg B, Woldseth B, Brackman D.   +7 more
europepmc   +2 more sources

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study [PDF]

Journal of Inherited Metabolic Disease, 2022
Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs).
Koenraad Veys, Ward Zadora, Katharina Hohenfellner, Detlef Böckenhauer, Mirian C. H. Janssen, Patrick Niaudet, Aude Servais, Rezan Topaloğlu, Martine Besouw, Robert Novo, Dieter Haffner, Nele Kanzelmeyer, Lars Pape, Elke Wühl, Erik Harms, Atif Awan, Przemysław Sikora, Gema Ariceta, Bert van den Heuvel, Elena Levtchenko   +19 more
openalex   +2 more sources

A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis [PDF]

Orphanet J Rare Dis, 2021
Christina Esther van Stein, Sabrina Klank, Marianne Grüneberg, Chris Ottolenghi, J. Grebe, Janine Reunert, Erik Harms, Thorsten Marquardt   +7 more
openalex   +2 more sources

Switching from immediate- to extended-release cysteamine in patients with nephropathic cystinosis: from clinical trials to clinical practice. [PDF]

Clin Kidney J
Background The purpose of this study is to evaluate the effectiveness and safety of switching from immediate-release (IR) to extended-release (ER) cysteamine in patients with nephropathic cystinosis (NC) in Spain.
Ariceta G, Santos F, López Muñiz A, Hermida A, Matoses ML, Ventura A, Martin-Moreno PL, González E, Acuña L, Giner E, Vara J.   +10 more
europepmc   +2 more sources

Crystalline keratopathy in nephropathic cystinosis [PDF]

Sudan J Paediatr, 2019
Priyanka Choudhary, Girish Chandra Bhatt, Amber Kumar, Brijesh Takkar   +3 more
openalex   +3 more sources