Clinical and molecular aspects of distal renal tubular acidosis in children

New Equations to Estimate GFR in Children with CKD

George J. Schwartz, Michael F. Schneider, Robert H. Mak et al. · Journal of the American Society of Nephrology · 2009 · 3.7K citations · Full text

Medicine, Nephrology, Pediatrics +17

ClC-5, the chloride channel mutated in Dent’s disease, colocalizes with the proton pump in endocytotically active kidney cells

W. C. Gunther, Anke Lüchow, Françoise Cluzeaud et al. · Proceedings of the National Academy of Sciences · 1998 · 429 citations

Life Sciences, Cell Biology, Nephrology +17

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Annabel N. Smith, Jennifer Skaug, Keith A. Choate et al. · Nature Genetics · 2000 · 420 citations

Medicine, Genetics, Molecular Genetics +11

Novel <i>ATP6V1B1</i> and <i>ATP6V0A4</i> mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Elizabeth H. Stover · Journal of Medical Genetics · 2002 · 317 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells

Lesley J. Bruce, Oliver Wrong, Ashley M. Toye et al. · Biochemical Journal · 2000 · 172 citations · Full text

Medicine, Genetics, Molecular Genetics +17