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Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis

• Authors : Elkhateeb, Nour; Selim, Rasha; Soliman, Neveen A.

• Source: Pediatric Nephrology. July, 2022, Vol. 37 Issue 7, p1555, 12 p.

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Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations).

• Authors : Horsthuis, Douwe J.; Molholm, Sophie; Foxe, John J.

• Source: Orphanet Journal of Rare Diseases. December 12, 2023, Vol. 18 Issue 1.

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Nephropathic cystinosis: an update on genetic conditioning

• Authors : Topaloglu, Rezan

• Source: Pediatric Nephrology. June, 2021, Vol. 36 Issue 6, p1347, 6 p.

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Adult complications of nephropathic cystinosis: a systematic review

• Authors : Kasimer, Rachel Nora; Langman, Craig B

• Source: Pediatric Nephrology. February, 2021, Vol. 36 Issue 2, p223, 14 p.

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Subtle cardiac dysfunction in nephropathic cystinosis: insight from tissue Doppler imaging and 2D speckle tracking echocardiography

• Authors : Afify, Mohamed H.; Abdelrahman, Safaa M.; Mohamed, Hossam I.

• Source: Pediatric Nephrology. December, 2020, Vol. 35 Issue 12, p2307, 11 p.

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

• Authors : Bako, Derya; Kilavuz, Sebile; Yasin Köksoy, Adem

• Source: Orphanet Journal of Rare Diseases. June 30, 2023, Vol. 18 Issue 1.

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Long-term clinical benefits of delayed-release cysteamine bitartrate capsules in patients with nephropathic cystinosis (response to 'A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis').

• Authors : Langman, Craig B.

• Source: Orphanet Journal of Rare Diseases. June 23, 2023, Vol. 18 Issue 1.

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Teenagers and young adults with nephropathic cystinosis display significant bone disease and cortical impairment

• Authors : Bertholet-Thomas, Aurélia; Claramunt-Taberner, Debora; Gaillard, Ségolène

• Source: Pediatric Nephrology. July, 2018, Vol. 33 Issue 7, p1165, 8 p.

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Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations).

• Authors : Francisco, Ana A.; Berruti, Alaina S.; Kaskel, Frederick J.

• Source: Orphanet Journal of Rare Diseases. April 13, 2021, Vol. 16 Issue 1.

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Recent Studies from Massachusetts General Hospital Add New Data to Distal Myopathies (Clinical Myopathy In Patients With Nephropathic Cystinosis)

• Source: Health & Medicine Week. March 26, 2021, 4902

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