Results 61 to 70 of about 7,637 (215)

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

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  

Therapies for Mitochondrial Disease: Past, Present, and Future

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Mitochondrial disease is a diverse group of clinically and genetically complex disorders caused by pathogenic variants in nuclear or mitochondrial DNA‐encoded genes that disrupt mitochondrial energy production or other important mitochondrial pathways. Mitochondrial disease can present with a wide spectrum of clinical features and can often be
Megan Ball, Nicole J. van Bergen, Alison G. Compton, David R. Thorburn, Shamima Rahman, John Christodoulou   +5 more
wiley   +1 more source

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

A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland

Orphanet Journal of Rare Diseases, 2023
Background While thyroid dysfunction develops in about 50% of untreated children with cystinosis, there is no data about how the sonography of thyroid tissue appears in this disease.
Derya Bako, Sebile Kılavuz, Adem Yasin Köksoy, Zeynep Uzan Tatli, Engin Beydogan   +4 more
doaj   +1 more source

FK506 IN PEDIATRIC KIDNEY-TRANSPLANTATION - PRIMARY AND RESCUE EXPERIENCE [PDF]

, 1995
Between December 14, 1989, and December 17, 1993,43 patients undergoing kidney transplantation alone at the Children’s Hospital of Pittsburgh received FK506 as the primary immunosuppressive agent. The mean recipient age was 10.2 ± 4.8 years (range 0.7–17.
ELLIS, D, GILBOA, N, HAKALA, TR, HOPP, L, IRISH, W, JORDAN, ML, MCCAULEY, J, MITCHELL, S, SCANTLEBURY, VP, SHAPIRO, R, SIMMONS, RL, STARZL, TE, TZAKIS, AG, VIVAS, C   +13 more
core   +1 more source

Synthetic Control of Water‐Stable Hybrid Perovskitoid Semiconductors

Advanced Materials, Volume 37, Issue 25, June 26, 2025.
Hybrid metal‐halide perovskites are promising semiconductors for optoelectronics, yet their water stability is problematic. A new synthesis method is developed using lead iodide and cysteamine under various pH conditions, forming stable perovskitoid structures.
Jiyoon Kim, Soumyadeep Ghosh, Nicholas W. G. Smith, Sunhao Liu, Yixuan Dou, Carla Slebodnick, Giti A. Khodaparast, Jin Qian, Lina Quan   +8 more
wiley   +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

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

Tension between the need for certainty and numerous uncertainties—A focus group study on various perspectives on a potential genomic newborn screening program in Germany

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract The advancement of genome sequencing technology and its potential application in newborn screening is being discussed in various countries. Genomic newborn screening (gNBS) can provide parents with information about their child's genetic susceptibility for known disorders. However, it also presents ethical and psychosocial challenges.
Elena Sophia Doll, Julia Mahal, Karla Alex, Seraina Petra Lerch, Stefan Kölker, Christian P. Schaaf, Eva C. Winkler, Beate Ditzen   +7 more
wiley   +1 more source