Results 121 to 130 of about 9,272 (239)

Fainting Fanconi syndrome clarified by proxy: a case report [PDF]

, 2017
BACKGROUND: Rare diseases may elude diagnosis due to unfamiliarity of the treating physicians with the specific disorder. Yet, advances in genetics have tremendously enhanced our ability to establish specific and sometimes surprising diagnoses.
Bass, P, Bockenhauer, D, Ellard, S, Hussain, K, Kleta, R, Unwin, R, Van't Hoff, W, Walsh, SB   +7 more
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Grip Strength in Adults and Children with Cystinosis

Kidney International Reports, 2021
Introduction: Chronic kidney disease (CKD) is associated with impaired muscle strength. Patients with cystinosis have an increased risk for impaired muscle strength because of early development of CKD and cystinosis-induced myopathy.
Helina Iyob-Tessema, Chia-Shi Wang, Sabina Kennedy, Loretta Reyes, Stella Shin, Larry A. Greenbaum, Julien Hogan   +6 more
doaj  

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis [PDF]

, 2018
Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited.
Ha Vinh, Russia, Huisman, Thierry, Landolt, Markus, Latal, Bea, Laube, Guido, Neuhaus, Thomas, Ulmer, Francis   +6 more
core  

Anaesthetic management of a child with cystinosis

Egyptian Journal of Anaesthesia, 2017
Cystinosis is a lysosomal storage disorder which is characterized by abnormal accumulation of amino acid cysteine. Cystinosis affects various tissues of the body and has several anesthetic implications.
Shilpi Verma, Vandana Sharma, Pradeep K. Bhatia, Nikhil Kothari   +3 more
doaj  

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. [PDF]

, 2016
BackgroundCardiovascular disease, a progressive manifestation of α-L-iduronidase deficiency or mucopolysaccharidosis type I, continues in patients both untreated and treated with hematopoietic stem cell transplantation or intravenous enzyme replacement ...
Dickson, Patricia I, Ellinwood, N Matthew, Esko, Jeffrey D, Gordts, Philip L, Khalid, Omar, Schwartz, Philip H, Vera, Moin U, Wang, Raymond Y   +7 more
core   +3 more sources

Negative modulation of the GABAAρ1 receptor function by l-cysteine [PDF]

, 2017
l-Cysteine is an endogenous sulfur-containing amino acid with multiple and varied roles in the central nervous system, including neuroprotection and the maintenance of the redox balance.
Beltrán González, Andrea Natalia, Calvo, Daniel Juan, Vicentini, Florencia   +2 more
core   +1 more source

Genome-Wide Association Scan for Diabetic Nephropathy Susceptibility Genes in Type 1 Diabetes [PDF]

, 2011
OBJECTIVE—Despite extensive evidence for genetic susceptibility to diabetic nephropathy, the identification of susceptibility genes and their variants has had limited success.
Barati, Michelle T., Bochenski, Jacek, Boright, Andrew P., Bull, Shelley B., Canani, Luis H., DCCT/EDIC Research Group, Doria, Alessandro, Dunn, Jonathon S., Katavetin, Pisut, Klein, Jon B., Krolewski, Andrzej Stefan, Krolewski, Bozena Krystyna, Kure, Masahiko, Merchant, Michael L., Mirea, Lucia, Mychaleckyj, Josyf C., Ng, Daniel P.K., Paterson, Andrew D., Pezzolesi, Marcus Guy, Placha, Grzegorz, Poznik, G. David, Rich, Stephen S., Rogus, John Joseph, Smiles, Adam, Waggott, Daryl, Walker, William H., Wanic, Krzysztof, Warram, James H., Wolkow, Pawel   +28 more
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Treatment of corneal cystine crystal accumulation in patients with cystinosis

Clinical Ophthalmology, 2014
Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F, Livingstone I, Oladiwura D, Ramaesh K   +3 more
doaj  

Estudo histoquímico do músculo esquelético em crianças com insuficiência renal crônica em tratamento dialítico [PDF]

, 1998
Among the modifications occurring in the uremic organism, in addition to the consequences of dialysis, myophathy and peripheral neuropathy are very significant.
Carvalhaes, João Tomás de Abreu, Oliveira, Acary Souza Bulle, Prado, Gilmar Fernandes do, Prado, Lucila Bizari Fernandes do, Schmidt, Beny   +4 more
core   +2 more sources

Cystinosis. A Clinico-pathological Study of Cystinosis in Two Siblings [PDF]

, 1952
R. Brown
openalex   +1 more source