Results 31 to 40 of about 1,339 (134)

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

Latest Clinical Approaches in the Ocular Management of Cystinosis: A Review of Current Practice and Opinion from the Ophthalmology Cystinosis Forum

Ophthalmology and Therapy, 2018
Cystinosis, a rare autosomal recessive disease caused by intracellular cystine accumulation, occurs in an estimated 1/100,000–200,000 live births. Ocular non-nephropathic cystinosis is typically diagnosed during adulthood, when patients present with ...
João Pedro Marques, Hong Liang
exaly   +3 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

Value of Renal Biopsy in Diagnosing Infantile Nephropathic Cystinosis Associated With Secondary Nephrogenic Diabetes Insipidus [PDF]

Pediatric and Developmental Pathology, 2017
Emily Joyce, Jacqueline Ho, Areeg El‐Gharbawy, Cláudia Salgado, Sarangarajan Ranganathan, Miguel Reyes‐Múgica   +5 more
openalex   +2 more sources

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 Nephrol
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 (CKD).
Brügelmann M, Müller S, Bohlen AV, Hohenfellner K, Büscher A, Kemper MJ, Fröde K, Kanzelmeyer N, Oh J, Billing H, Gellermann J, Müller D, Weber LT, Acham-Roschitz B, Arbeiter K, Tönshoff B, Hagenberg M, Žebec MS, Haffner D, Zivicnjak M.   +19 more
europepmc   +2 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

Nephropathic infantile cystinosis [PDF]

Definitions, 2020
Inserm
openalex   +2 more sources

Behavioral profiles of children with infantile nephropathic cystinosis [PDF]

Developmental Medicine & Child Neurology, 2005
Gustavo Delgado, Amy Schatz, Sharon Nichols, Mark I. Appelbaum, Doris A. Trauner   +4 more
openalex   +2 more sources

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

CEN Case Reports, 2022
Bobbity Deepthi, Sriram Krishnamurthy, Pediredla Karunakar, Gowrishankar Barathidasan, Thiagarajan Narayanasamy Rajavelu   +4 more
openalex   +3 more sources

MP854ARTHROPATHY IN PATIENTS WITH INFANTILE NEPHROPATHIC CYSTINOSIS AND A POTENTIAL PHENOTYPIC ASSOCIATION WITH THE C.473T>C MUTATION [PDF]

, 2017
Douglas R. Stewart, Jenny Patterson, Ian J. Ramage, B. C. Reynolds   +3 more
openalex   +2 more sources