Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heter...
Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment
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Author / Creator
Portales‐Castillo, Ignacio , Singal, Rhea , Ambrose, Anastasia , Song, Jong Hee , Son, Minsoo , Goo, Young Ah , Zhou, Wen , Traum, Avram Z. , Coler‐Reilly, Ariella , Humphreys, Benjamin D. , Civitelli, Roberto , Jüppner, Harald , Lundquist, Andrew L. , Seres, Peter , Allegretti, Andrew S. and Mercimek‐Andrews, Saadet
Publisher
Hoboken, USA: John Wiley & Sons, Inc
Journal title
Language
English
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
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Scope and Contents
Contents
Autosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood and progresses to end‐stage kidney disease (ESKD) in adults. We study creatine metabolism in two individuals of unrel...
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Full title
Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ed57ef7a83974f628ba4c03ecfbbcf4e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ed57ef7a83974f628ba4c03ecfbbcf4e
Other Identifiers
ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12442
