Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome (2009)
Brochard, Karine, Boyer, Olivia, Blanchard, Anne, Loirat, Chantal, Niaudet, Patrick, Macher, Marie-Alice, ...
Background. Ante/neonatal Bartter syndrome (BS) is a hereditary salt-losing tubulopathy due to mutations in genes encoding proteins involved in NaCl reabsorption in the thick ascending limb of...
Urine in clinical proteomics. (2008)
Decramer, Stéphane, Gonzalez De Peredo, Anne, Breuil, Benjamin, Mischak, Harald, Monsarrat, Bernard, Bascands, Jean-Loup, ...
Urine has become one of the most attractive biofluids in clinical proteomics as it can be obtained non-invasively in large quantities and is stable compared with other biofluids. The urinary proteome...
Urine in clinical proteomics. (2008)
Decramer, Stéphane, Gonzalez De Peredo, Anne, Breuil, Benjamin, Mischak, Harald, Monsarrat, Bernard, Bascands, Jean-Loup, ...
Urine has become one of the most attractive biofluids in clinical proteomics as it can be obtained non-invasively in large quantities and is stable compared with other biofluids. The urinary proteome...
Urine in clinical proteomics. (2008)
Decramer, Stéphane, Gonzalez De Peredo, Anne, Breuil, Benjamin, Mischak, Harald, Monsarrat, Bernard, Bascands, Jean-Loup, ...
Urine has become one of the most attractive biofluids in clinical proteomics as it can be obtained non-invasively in large quantities and is stable compared with other biofluids. The urinary proteome...
Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Philippe, Aurélie, Nevo, Fabien, Esquivel, Ernie L., Reklaityte, Dalia, Gribouval, Olivier, Tête, Marie-Josèphe, ...
Classically, infants with mutations in NPHS1, which encodes nephrin, present with nephrotic syndrome within the first 3 mo of life (congenital nephrotic syndrome of the Finnish-type), and children...