Results 131 to 140 of about 2,262,684 (231)
Fanconi syndrome due to prolonged use of low-dose adefovir
Journal of Research in Medical Sciences, 2015 Fanconi syndrome results from a generalized abnormality of the proximal tubules of the kidney and owing to phosphate depletion can cause hypophosphatemic osteomalacia.
Xiao-Bing Wang +4 more
doaj
Progressive myoclonic epilepsy with Fanconi syndrome
This report illustrates the difficulties in diagnosing complex cases and demonstrates how whole exome sequencing can resolve complex ...
Andreoletti, Gaia +5 more
core +1 more source
Fanconi Anemia in Portugal: retrospective study of 34 years of investigation at National Health Institute (1980-2014) [PDF]
, 2016 A Anemia de Fanconi (AF) é uma doença recessiva rara, com uma frequência estimada de 4 a 7 por 1 000 000 de nascimentos. Caraterizase por malformações congénitas, falência medular e hipersensibilidade a agentes clastogénicos de DNA.
Ambrósio, Ana Paula +6 more
core
New ideas for the diagnosis and treatment of Fanconi syndrome: a pilot study
, 2013 Shaofang Tang +4 more
openalex +1 more source
Sweet syndrome in patients with Fanconi anaemia: association with extracutaneous manifestations and progression of haematological disease [PDF]
, 2011 Lisa Giulino +5 more
openalex +1 more source
The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives
Nature Reviews Nephrology, 2017 S. Cherqui, P. Courtoy
semanticscholar +1 more source
Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells [PDF]
, 2018 We have determined levels of glutathione (GSH), ATP, mitochondrial complex activity and apoptosis rate in proximal tubular cells (PTCs) exfoliated from urine in cystinotic (n=9) and control (n=9) children.
Haq, Mushfequr +6 more
core
Growth failure in a girl with Fanconi syndrome and growth hormone deficiency [PDF]
, 2004 Christian Plank +3 more
openalex +1 more source