| Long-term follow-up of well-treated nephropathic cystinosis patients. | |
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MedLine Citation:
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PMID: 15480385 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report the excellent clinical outcomes of siblings with nephropathic cystinosis treated diligently with cysteamine starting at 20 months and 2 months of age. Now 15 and 8 years old, they have glomerular filtration rates of 78 and 105 mL/min/1.73m 2 , respectively. These cases illustrate the critical importance of early diagnosis and treatment. |
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Authors:
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Robert Kleta; Isa Bernardini; Masako Ueda; William S Varade; Chanika Phornphutkul; Donna Krasnewich; William A Gahl |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Journal of pediatrics Volume: 145 ISSN: 0022-3476 ISO Abbreviation: J. Pediatr. Publication Date: 2004 Oct |
Date Detail:
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Created Date: 2004-10-13 Completed Date: 2004-12-07 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375410 Medline TA: J Pediatr Country: United States |
Other Details:
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Languages: eng Pagination: 555-60 Citation Subset: AIM; IM |
Affiliation:
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Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA. kletar@mail.nih.gov <kletar@mail.nih.gov> |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cysteamine
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administration & dosage* Cystine / metabolism Fanconi Syndrome / drug therapy* Female Follow-Up Studies Glomerular Filtration Rate Growth Disorders / prevention & control Humans Infant Infant, Newborn Male Time Factors Treatment Outcome |
| Chemical | |
Reg. No./Substance:
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56-89-3/Cystine; 60-23-1/Cysteamine |
| Comments/Corrections | |
Comment In:
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J Pediatr. 2004 Oct;145(4):436-8
[PMID:
15480361
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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