Matches in SemOpenAlex for { <https://semopenalex.org/work/W2005050418> ?p ?o ?g. }
- W2005050418 endingPage "59" @default.
- W2005050418 startingPage "51" @default.
- W2005050418 abstract "Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease was transformed into a treatable disorder. Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important. In this article, we offer a review of the manifestations of cystinosis, including the proximal tubular dysfunction of renal Fanconi syndrome, and discuss the prevention and treatment of the disorder’s systemic complications. We focus on the nephropathic forms of cystinosis, aiming to assist nephrologists and other physicians to develop early recognition and appropriate management of cystinosis patients." @default.
- W2005050418 created "2016-06-24" @default.
- W2005050418 creator A5040532163 @default.
- W2005050418 creator A5082442398 @default.
- W2005050418 date "2012-08-18" @default.
- W2005050418 modified "2023-10-01" @default.
- W2005050418 title "Cystinosis: the evolution of a treatable disease" @default.
- W2005050418 cites W1483579316 @default.
- W2005050418 cites W1494563015 @default.
- W2005050418 cites W1563147417 @default.
- W2005050418 cites W1621919167 @default.
- W2005050418 cites W17544352 @default.
- W2005050418 cites W1970345456 @default.
- W2005050418 cites W1970467787 @default.
- W2005050418 cites W1970589125 @default.
- W2005050418 cites W1971853757 @default.
- W2005050418 cites W1972181239 @default.
- W2005050418 cites W1973492358 @default.
- W2005050418 cites W1974324102 @default.
- W2005050418 cites W1975360166 @default.
- W2005050418 cites W1976348649 @default.
- W2005050418 cites W1980180365 @default.
- W2005050418 cites W1981133611 @default.
- W2005050418 cites W1990357299 @default.
- W2005050418 cites W1990560333 @default.
- W2005050418 cites W1992286944 @default.
- W2005050418 cites W1995168531 @default.
- W2005050418 cites W1996130473 @default.
- W2005050418 cites W1997816785 @default.
- W2005050418 cites W2001137143 @default.
- W2005050418 cites W2001151952 @default.
- W2005050418 cites W2004758600 @default.
- W2005050418 cites W2010402069 @default.
- W2005050418 cites W2017112348 @default.
- W2005050418 cites W2019640498 @default.
- W2005050418 cites W2029337399 @default.
- W2005050418 cites W2040233259 @default.
- W2005050418 cites W2041185237 @default.
- W2005050418 cites W2042880875 @default.
- W2005050418 cites W2048475659 @default.
- W2005050418 cites W2054395618 @default.
- W2005050418 cites W2062204486 @default.
- W2005050418 cites W2071338372 @default.
- W2005050418 cites W2071398645 @default.
- W2005050418 cites W2073599719 @default.
- W2005050418 cites W2083279563 @default.
- W2005050418 cites W2083363954 @default.
- W2005050418 cites W2085905503 @default.
- W2005050418 cites W2090735785 @default.
- W2005050418 cites W2091625822 @default.
- W2005050418 cites W2092642366 @default.
- W2005050418 cites W2105504698 @default.
- W2005050418 cites W2106652794 @default.
- W2005050418 cites W2110140698 @default.
- W2005050418 cites W2111494670 @default.
- W2005050418 cites W2112678460 @default.
- W2005050418 cites W2115716024 @default.
- W2005050418 cites W2134359127 @default.
- W2005050418 cites W2134372068 @default.
- W2005050418 cites W2136712490 @default.
- W2005050418 cites W2140205385 @default.
- W2005050418 cites W2145195669 @default.
- W2005050418 cites W2149618608 @default.
- W2005050418 cites W2149800479 @default.
- W2005050418 cites W2149868761 @default.
- W2005050418 cites W2156215371 @default.
- W2005050418 cites W2159427544 @default.
- W2005050418 cites W2167987042 @default.
- W2005050418 cites W2170314570 @default.
- W2005050418 cites W2302122566 @default.
- W2005050418 cites W2474023059 @default.
- W2005050418 doi "https://doi.org/10.1007/s00467-012-2242-5" @default.
- W2005050418 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3505515" @default.
- W2005050418 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22903658" @default.
- W2005050418 hasPublicationYear "2012" @default.
- W2005050418 type Work @default.
- W2005050418 sameAs 2005050418 @default.
- W2005050418 citedByCount "128" @default.
- W2005050418 countsByYear W20050504182013 @default.
- W2005050418 countsByYear W20050504182014 @default.
- W2005050418 countsByYear W20050504182015 @default.
- W2005050418 countsByYear W20050504182016 @default.
- W2005050418 countsByYear W20050504182017 @default.
- W2005050418 countsByYear W20050504182018 @default.
- W2005050418 countsByYear W20050504182019 @default.
- W2005050418 countsByYear W20050504182020 @default.
- W2005050418 countsByYear W20050504182021 @default.
- W2005050418 countsByYear W20050504182022 @default.
- W2005050418 countsByYear W20050504182023 @default.
- W2005050418 crossrefType "journal-article" @default.
- W2005050418 hasAuthorship W2005050418A5040532163 @default.
- W2005050418 hasAuthorship W2005050418A5082442398 @default.
- W2005050418 hasBestOaLocation W20050504182 @default.
- W2005050418 hasConcept C126322002 @default.
- W2005050418 hasConcept C142724271 @default.
- W2005050418 hasConcept C177713679 @default.
- W2005050418 hasConcept C181199279 @default.
- W2005050418 hasConcept C187212893 @default.