Results 1 to 10 of about 1,020 (91)

Updated Gene Therapy for Renal Inborn Errors of Metabolism [PDF]

Genes
Rupesh Raina, Raina Rupesh
exaly   +2 more sources

Raising Awareness Towards Underdiagnosed Renal Hypouricemia: A Case Report

Revista Portuguesa de Nefrologia e Hipertensão, 2023
Renal hypouricemia (RHUC) is an autosomal recessive disease caused by the dysfunction of uric acid (UA) transporters in the proximal tubule causing increased fractional excretion of uric acid (FEUA).
Pedro Lisboa-Gonçalves, Filipa Ferreira, Isabel Tavares, João Paulo Oliveira   +3 more
doaj   +1 more source

Emerging key roles for P2X receptors in the kidney

Frontiers in Physiology, 2013
P2X ionotropic non-selective cation channels are expressed throughout the kidney and are activated in a paracrine or autocrine manner following the binding of extracellular ATP and related extracellular nucleotides.
Scott S Wildman
doaj   +1 more source

Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation. [PDF]

World J Transplant
Paulin S, Rajakumar A, Menon J, Shanmugam N, Rela M.   +4 more
europepmc   +1 more source

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis treated with living-donor kidney transplantation: case report. [PDF]

CEN Case Rep
Kaba A, Kaku K, Shingaki K, Kubo S, Hisadome Y, Noguchi H, Nishiyama K, Okabe Y, Nakamura M.   +8 more
europepmc   +1 more source

Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases. [PDF]

Mol Genet Metab, 2023
Schumann A, Schultheiss UT, Ferreira CR, Blau N.   +3 more
europepmc   +1 more source

Osmotic Nephropathy Induced by L-Proline Stabilized Sucrose-free Intravenous Immunoglobulins: A Case Report. [PDF]

Kidney Med
Ulpiano Trillig A, Rotman S, Mehier P, Rossier A, Vogel G.   +4 more
europepmc   +1 more source

Identification of Primary Hyperoxaluria Type III by Gas Chromatography/Mass Spectrometry-Based Urine Metabolomics. [PDF]

Metabolites
Kuhara T, Ohse M, Fukasawa T, Maruyama K, Pitt J.   +4 more
europepmc   +1 more source

Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians. [PDF]

Int J Mol Sci
Vecino-Pérez M, García-Murias M, Carrera N, Pedrosa P, García-González MÁ.   +4 more
europepmc   +1 more source