Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel <i>CLCN5</i> and <i>OCRL</i> variants. [PDF]
Jiang X +6 more
europepmc +1 more source
Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits. [PDF]
Li Y +15 more
europepmc +1 more source
Early and mid-embryonic upregulation of chloride, calcium, and sodium transporter genes mark functional maturation of the chorioallantoic membrane in broiler embryos. [PDF]
Amaz SA, Poudel S, Jha R, Mishra B.
europepmc +1 more source
Hypophosphatemic rickets: diagnosis and treatment. [PDF]
Bruneau H, Bergwitz C.
europepmc +1 more source
Dent disease: clinical practice recommendations. [PDF]
Bökenkamp A +11 more
europepmc +1 more source
The inositol 1,4,5-trisphosphate receptor type 2 protein domains regulate calcium levels and Ion transport gene expression in laying ducks' uterus. [PDF]
Zhao Y +5 more
europepmc +1 more source
The kidney in genetic metabolic disorders. [PDF]
Schultheiss UT, Schumann A.
europepmc +1 more source
Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report. [PDF]
Ambarsari CG +3 more
europepmc +1 more source
Gene therapy of Dent disease type 1 in newborn ClC-5 null mice for sustained transgene expression and gene therapy effects. [PDF]
Lyu P +6 more
europepmc +1 more source
EndoMAP.v1 charts the structural landscape of human early endosome complexes. [PDF]
Gonzalez-Lozano MA +6 more
europepmc +1 more source

