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Nephropathic cystinosis: an update on genetic conditioning.

• Authors : Topaloglu, Rezan

Subjects: HEALTH services accessibility; GENETIC mutation; HEALTH status indicators

• Source: Pediatric Nephrology. Jun2021, Vol. 36 Issue 6, p1347-1352. 6p. 2 Color Photographs, 2 Graphs.

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Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.

• Authors : El Younsi, Mariem; Trabelsi, Médiha; Ben Youssef, Sandra

Subjects: SEQUENCE analysis; GENETIC mutation; GENETICSTUNISIA

• Source: Pediatric Nephrology. Jan2023, Vol. 38 Issue 1, p119-129. 11p. 4 Diagrams, 2 Charts, 1 Graph.

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A breakthrough in readthrough? Could geneticin lead the way to effective treatment for cystinosis nonsense mutations?

• Authors : Midgley, Julian

Subjects: AMINOGLYCOSIDES; RNA metabolism; BIOCHEMISTRY

• Source: Pediatric Nephrology. May2019, Vol. 34 Issue 5, p917-920. 4p. 1 Diagram.

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Effects of long-term cysteamine treatment in patients with cystinosis.

• Authors : Ariceta, Gema; Giordano, Vincenzo; Santos, Fernando

Subjects: CHRONIC kidney failure; INBORN errors of metabolism diagnosis; AMINES

• Source: Pediatric Nephrology. Apr2019, Vol. 34 Issue 4, p571-578. 8p. 1 Diagram, 1 Chart.

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Researchers from L.V. Prasad Eye Institute Detail New Studies and Findings in the Area of Cystinosis (Unveiling cystinosis in India).

Subjects: RESEARCH personnel; LYSOSOMAL storage diseases; GROWTH disordersINDIA

• Source: Genomics & Genetics Weekly; 7/19/2024, p1478-1478, 1p

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Identification and Characterisation of the Murine Homologue of the Gene Responsible for Cystinosis, Ctns.

• Authors : Cherqui, Stéphanie¹ ; Kalatzis, Vasiliki¹ ; Forestier, Lionel¹

Subjects: *CYSTINOSIS; *GENES; *HOMOLOGY (Biology)

• Source: BMC Genomics. 2000, Vol. 1, p1-5. 5p. 1 Diagram, 1 Chart.

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New Cystinosis Research Reported from Albert Einstein College of Medicine [Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations)].

Subjects: EVOKED potentials (Electrophysiology); GENETIC mutation; LYSOSOMAL storage diseasesALBERT Einstein College of Medicine

• Source: Genomics & Genetics Weekly; 1/5/2024, p836-836, 1p

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Cystinosis Patient Day in Iran.

• Authors : Basiratnia, Mitra¹

Subjects: *CYSTINOSIS; *KIDNEY transplantation; *GENETIC counseling

• Source: Journal of Pediatric Nephrology. 2014, Vol. 2 Issue 3, p104-106. 3p.

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Genetic basis of cystinosis in Turkish patients: a single-center experience.

• Authors : Topaloglu, Rezan; Vilboux, Thierry; Coskun, Turgay

Subjects: INBORN errors of metabolism diagnosis; ACADEMIC medical centers; AMINESTURKEY

• Source: Pediatric Nephrology. Jan2012, Vol. 27 Issue 1, p115-121. 7p. 3 Diagrams, 2 Charts.

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Natural history of adolescent-onset cystinosis.

• Authors : Midgley, Julian; El-Kares, Reyhan; Mathieu, François

Subjects: AGE factors in disease; GENETIC techniques; KIDNEY transplantation

• Source: Pediatric Nephrology. Aug2011, Vol. 26 Issue 8, p1335-1337. 3p. 1 Diagram.

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