Results 61 to 70 of about 7,589 (245)

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +1 more source

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BMC Nephrology, 2017
Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito   +5 more
doaj   +1 more source

Cognitive functions and behavioural profiles in children with cystinosis treated with cysteamine and correlation with treatment duration

Middle East Current Psychiatry, 2022
Background Cystinosis is a rare autosomal recessive disease. Children with nephropathic cystinosis (NCTN) have evidence of intellectual dysfunction and behavioural abnormalities which are attributed to renal dysfunction, metabolic disarrangement, and ...
Fatma M. Atia, Weam Ryad Alfaleet, Somaya H. Shaheen, Neveen A. Soliman   +3 more
doaj   +1 more source

Newborn Screening: Review of its Impact for Cystinosis

Cells, 2022
Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy.
Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman, Rezan Topaloglu   +5 more
doaj   +1 more source

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]

, 2019
BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina, Bacino, Carlos A, Bichell, Terry Jo, Bird, Lynne M, Golden, Stephanie, Han, Julia, Kimonis, Virginia, Peters, Sarika U, Waisbren, Susan   +8 more
core  

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act [PDF]

, 2015
Background: Lysosomal storage disorders are a heterogeneous group of approximately 50 monogenically inherited orphan conditions. A defect leads to the storage of complex molecules in the lysosome, and patients develop a complex multisystemic phenotype of
Hoffmann, Georg Friedrich, Mechler, Konstantin, Mountford, William K., Ries, Markus   +3 more
core   +1 more source

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source

Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis [PDF]

, 2017
Nephropathic cystinosis, a lysosomal storage disease caused by mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, is characterized by generalized proximal tubule (PT) dysfunction that progresses, if untreated, to end-stage ...
Antignac, Corinne, Devuyst, Olivier, Luciani, Alessandro, Nevo, Nathalie, Raggi, Claudia, Terryn, Sara   +5 more
core  

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. [PDF]

, 2020
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Cherqui, Stephanie, Haquang, Joseph H, Luebeck, Jens, Mali, Prashant, Rainaldi, Joseph N, Rocca, Celine J, Sharma, Jay, Shi, Yanmeng   +7 more
core  

Averting the legacy of kidney disease: focus on childhood [PDF]

, 2016
World Kidney Day 2016 focuses on kidney disease in childhood and the antecedents of adult kidney disease that can begin in earliest childhood. Chronic kidney disease (CKD) in childhood differs from that in adults, as the largest diagnostic group among ...
Franz Schaefer, Julie R. Ingelfinger, Kamyar Kalantar-Zadeh, null null   +3 more
core   +6 more sources