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A Personal History of Cystinosis by Dr. Jerry Schneider.

• Authors : Schneider, Jerry; Levtchenko, Elena

Subjects: LYSOSOMAL storage diseases; METABOLIC disorders; PHYSICIANSNATIONAL Institutes of Health (U.S.); NORTHWESTERN University (Evanston, Ill.); JOHNS Hopkins University

• Source: Cells (2073-4409); Mar2022, Vol. 11 Issue 6, p945, 8p

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A new mutation in two siblings with cystinosis presenting with Bartter syndrome.

• Authors : Pennesi, Marco; Marchetti, Federico; Crovella, Sergio

Subjects: METABOLIC disorders; GENETIC mutation; SIBLINGS

• Source: Pediatric Nephrology. Feb2005, Vol. 20 Issue 2, p217-219. 3p.

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Investigators from Scripps Research Institute Zero in on Cystinosis (Reconstitution of Rab11-fip4 Expression Rescues Cellular Homeostasis In Cystinosis).

Subjects: LYSOSOMAL storage diseases; CYTOLOGY; MOLECULAR biologyCENTRAL America

• Source: Genomics & Genetics Weekly; 11/22/2024, p760-760, 1p

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Study Findings on Cystinosis Discussed by Researchers at Prince Sultan Military Medical City (Intermediate type cystinosis with a novel CTNS variant in a child: a case report).

Subjects: LYSOSOMAL storage diseases; PEDIATRIC nephrology; METABOLIC disorders

• Source: Genomics & Genetics Weekly; 10/4/2024, p1348-1348, 1p

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A Bartter syndrome patient presenting with severe growth retardation: Answers.

• Authors : Erfidan, Gökçen; Alaygut, Demet; Özdemir Şimşek, Özgür

Subjects: BARTTER syndrome; ALKALOSIS; HYPOTHYROIDISM

• Source: Pediatric Nephrology. May2022, Vol. 37 Issue 5, p1043-1047. 5p. 1 Black and White Photograph, 2 Charts.

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Optical diagnosis of a metabolic disease: cystinosis.

• Authors : Cinotti, Elisa¹ ; Perrot, Jean Luc¹; Labeille, Bruno¹

Subjects: *CYSTINOSIS; *RENAL tubular transport disorders; *METABOLIC disorders

• Source: Journal of Biomedical Optics. Apr2013, Vol. 18 Issue 4, p1-4. 4p.

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Aristotle University Reports Findings in Cystinosis (Addressing the psychosocial aspects of transition to adult care in patients with cystinosis).

Subjects: LYSOSOMAL storage diseases; METABOLIC disordersTHESSALONIKE (Greece)

• Source: Pediatrics Week; 4/11/2024, p72-72, 1p

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Findings from Oregon Health & Science University (OHSU) Yields New Data on Nephropathy (Gastrointestinal Challenges In Nephropathic Cystinosis: Clinical Perspectives).

Subjects: LYSOSOMAL storage diseases; METABOLIC disordersPORTLAND (Or.)OREGON Health & Science University

• Source: Gastroenterology Week; 4/2/2024, p349-349, 1p

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Cystaran: A Cystine-Depleting Treatment.

• Authors : Chaglasian, Elyse L.; Than, Tammy P.

Subjects: *CYSTINOSIS; *OPHTHALMIC drugs; *METABOLIC disordersLEADIANT Biosciences Inc ; UNITED States. Food & Drug Administration

• Source: Review of Optometry. 1/15/2013 Review of Cornea & Contact Lenses, p12-12. 1p.

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Successful treatment of respiratory dysfunction in cystinosis by nocturnal non-invasive positive pressure ventilation.

• Authors : Edens, M. A.; van Son, W. J.; de Greef, M. H. G.

Subjects: CYSTINOSIS; METABOLIC disorders; PATIENTS

• Source: Clinical Nephrology; 2006, Vol. 66 Issue 4, p306-309, 4p

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