Results 141 to 150 of about 2,289,814 (238)
Sweet syndrome in patients with Fanconi anaemia: association with extracutaneous manifestations and progression of haematological disease [PDF]
Lisa Giulino +5 more
openalex +1 more source
Fanconi Anemia in Portugal: retrospective study of 34 years of investigation at National Health Institute (1980-2014) [PDF]
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
Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. [PDF]
Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β ...
Antignac, Corinne +16 more
core
New ideas for the diagnosis and treatment of Fanconi syndrome: a pilot study
Shaofang Tang +4 more
openalex +1 more source
Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi–Bickel Syndrome [PDF]
Sanaa Sharari +16 more
openalex +1 more source
Hyperamino-aciduria in Lignac-Fanconi Disease, in Galactosaemia and in an Obscure Syndrome [PDF]
Horst Bickel, D. C. Thursby-Pelham
openalex +1 more source
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
M. Reichold +53 more
semanticscholar +1 more source

