Results 31 to 40 of about 575 (134)

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys. Advances in renal transplantation, cysteamine treatment and improved medical care have increased life expectancy, revealing additional ...
Medaer L, Mora R, Zhou Z, Giarratana N, Yedigaryan L, La Rovere R, Levtchenko E, Mouly V, Verhoeyen E, Eeltink S, Treumann A, Vervliet T, Sampaolesi M, Gijsbers R.   +13 more
europepmc   +2 more sources

Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge

CEN Case Reports, 2022
A 7-month-old male infant was referred to us for evaluation of hypercalcemia and failure to thrive. He was the second-born child to third-degree consanguineous parents with a birth weight of 3.5 kg. The index child was severely underweight. Initial laboratory investigations showed hypercalcemia (13.6 mg/dL), hypophosphatemia, hyponatremia, hypokalemia ...
Bobbity Deepthi, Sriram Krishnamurthy, Pediredla Karunakar, Gowrishankar Barathidasan, Thiagarajan Narayanasamy Rajavelu   +4 more
openalex   +4 more sources

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report. [PDF]

JIMD Rep
ABSTRACT Many inherited metabolic disorders (IMD) are associated with end‐organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates.
Taj R, Ng K, Cuddapah SR, Rand EB, Bleicher M, Amaral S, Hoteit MA, Reddy RK, Feyssa E, Furth EE, Olthoff KM, Abu-Gazala S, Levine MH, Vyas F, Abt PL.   +14 more
europepmc   +2 more sources

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

Br J Ophthalmol, 2023
Keidel L, Hohenfellner K, Schworm B, Priglinger S, Luft N, Priglinger C.   +5 more
europepmc   +3 more sources

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis. [PDF]

Mol Genet Metab, 2022
Hohenfellner K, Nießl C, Haffner D, Oh J, Okorn C, Palm K, Schlingmann KP, Wygoda S, Gahl WA.   +8 more
europepmc   +2 more sources

Introducing the University of California, Irvine Corneal Cystine Crystal Score: A Novel Tool for Assessing Corneal Crystal Deposition in Cystinosis Patients [PDF]

Scientific Reports
This study aimed to develop and validate the University of California Irvine Corneal Cystine Crystal Score (UCI CCCS), a novel grading system for objectively assessing corneal crystal deposition in cystinosis patients using a slit lamp biomicroscope ...
Kimia Rezaei, Kourosh Shahraki, Lauren Chen, Shaden H. Yassin, Olivia L. Lee, Kianoush Shahraki, Donny W. Suh   +6 more
doaj   +2 more sources

Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis

Ophthalmology Journal, 2021
Małgorzata Kowalczyk, Mario Damiano Toro, Robert Ręjdak, Przemysław Sikora   +3 more
openalex   +3 more sources

Diagnosis and management of cystinosis: systematic review for a clinical practice guideline [PDF]

Orphanet Journal of Rare Diseases
Background Cystinosis is a rare genetic disorder, with the majority of patients suffering from infantile nephropathic cystinosis, the most severe form. If left untreated, cystinosis causes serious morbidity, initially through progressive kidney and eye ...
Dominic Ledinger, Barbara Nussbaumer-Streit, Brigitte Piso, Andreea Dobrescu, Arianna Gadinger, Irma Klerings, Katharina Hohenfellner, Isolde Sommer   +7 more
doaj   +2 more sources

Infantile Nephropathic Cystinosis: Diagnosis and Treatment of a Systemic Disease

, 2020
Portuguese Journal of Pediatrics, Vol. 52 No. 4 (2021)
Filipa Urbano, Catarina Salgado, Inês Leal, Laura Vilarinho, Carla Simão   +4 more
openalex   +3 more sources

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations. [PDF]

Hum Genome Var, 2017
Sadeghipour F, Basiratnia M, Derakhshan A, Fardaei M.   +3 more
europepmc   +3 more sources