- A Case of Cystinosis
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Jung MH, Keun SO, Lee SJ, Lee BC
- KMID: 1606831
- J Korean Pediatr Soc.
- 2003 Jun;46(6):615-619.
Cystinosis, an autosomal recessively inherited lysosomal storage disease, results from impaired transport of the amino acid cystine out of cellular lysosomes. The consequent accumulation and crystallization of cystine destroys tissues,... -
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- A Case of Cystine Crystal Depositions within Cornea in Cystinosis
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Choi YJ, Yoo JR, Park MR, Chung SK
- KMID: 2125585
- J Korean Ophthalmol Soc.
- 2003 Jul;44(7):1689-1692.
PURPOSE: We report a case of systemic cystinosis who showed cystine crystal depositions within cornea. METHODS: A 13-year-old boy with systemic cystinosis who had chronic renal failure, growth retardation, rickets... -
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- Endocrine complications during and after adolescence in a patient with cystinosis
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Ahn MB, Kim SE, Cho WK, Jung MH, Suh BK
- KMID: 2366795
- Ann Pediatr Endocrinol Metab.
- 2016 Sep;21(3):174-178.
- doi: 10.6065/apem.2016.21.3.174
Cystinosis is a rare disease characterized by abnormal lysosomal cystine accumulation of cystine due to impaired lysosomal transport. We previously reported the first case of cystinosis in Korea in a... -
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- Ocular Manifestations of Pediatric Systemic Disease
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Lim HW, Oh SY
- KMID: 2350369
- Hanyang Med Rev.
- 2016 Aug;36(3):182-185.
- doi: 10.7599/hmr.2016.36.3.182
Pediatric diseases are important because diagnosis and care for these can be complex. Among them, specific diseases have been associated with ocular involvement. This review presents the ocular manifestations of... -
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- Proximal renal tubular acidosis with and without Fanconi syndrome
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Kashoor I, Batlle D
- KMID: 2457719
- Kidney Res Clin Pract.
- 2019 Sep;38(3):267-281.
- doi: 10.23876/j.krcp.19.056
Proximal renal tubular acidosis (RTA) is caused by a defect in bicarbonate (HCO₃â») reabsorption in the kidney proximal convoluted tubule. It usually manifests as normal anion-gap metabolic acidosis due to... -
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