Results 91 to 100 of about 16,903 (211)

METABOLIC EVALUATION FOR PEDIATRIC RENAL STONES - A STITCH IN TIME

Pakistan Armed Forces Medical Journal, 2018
Objectives: To evaluate the pediatric patients with renal calculi in terms of bio-metabolic profile. Study Design: Cross sectional study. Place and Duration of Study: Department of pediatric nephrology the Children’s Hospital and the Institute ...
Iram Naz, Farkhanda Hafeez
doaj  

Research opportunities in bone demineralization, phase 3 [PDF]

Bone demineralization, calcium responses to weightlessness, endocrine responses to weightlessness, mechanisms of bone loss, biomedical research, pathogenesis, and endocrine effects are ...
Anderson, S. A., Cohn, S. H.
core   +2 more sources

Hydrochlorothiazide in CLDN16 mutation [PDF]

, 2017
Background. Hydrochlorothiazide (HCT) is applied in the therapy of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) caused by claudin-16 (CLDN16) mutation. However, the short-term efficacy of HCT to reduce hypercalciuria in FHHNC
Dötsch, Jörg, Gravou-Apostolatou, Chara, Konrad, Martin, Plank, Christian, Rascher, Wolfgang, Stöhr, Wolfgang, Zimmermann, Bettina   +6 more
core  

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

, 2016
Background: Deletions in the Xq22.3–Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (
Andreoletti, Gaia, Dewing, Jennifer M., Ennis, Sarah, Gilbert, Rodney D., Lachlan, Katherine, O'kelly, Ita, Seaby, Eleanor G.   +6 more
core   +1 more source

Hypercalciuria [PDF]

BMJ, 1965
A W, SMITH, C L, MCILWAINE
openaire   +2 more sources

Clinical features and genetic analysis of 15 Chinese children with dent disease

Renal Failure
Objective  The clinical characteristics, genetic mutation spectrum, treatment strategies and prognoses of 15 children with Dent disease were retrospectively analyzed to improve pediatricians’ awareness of and attention to this disease.Methods  We ...
Qian Li, Zhenle Yang, Ruixian Zang, Suwen Liu, Lichun Yu, Jing Wang, Cong Wang, Xiaoyuan Wang, Shuzhen Sun   +8 more
doaj   +1 more source

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. [PDF]

, 2018
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little
Bacino, Carlos A, Bonner, Melanie J, Butler, Megan W, Cope, Heidi, Frush, Donald P, Jiang, Yong-Hui, Lachman, Ralph S, Lee, Brendan, McCall, Chad M, McDonald, Marie T, Pena, Loren DM, Pendse, Avani A, Rothman, Jennifer A, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Tan, Queenie K-G, Undiagnosed Diseases Network, Walley, Nicole   +18 more
core  

Descriptive study of clinical profile and benefit of therapy in childhood hypercalciuria

International Journal of Nephrology and Renovascular Disease, 2014
Mahalingam Vijayakumar, Prahlad Nageswaran, O Manimegalai Tirukalathi, Ekambaram Sudha, Shweta Priyadarshini Department of Pediatric Nephrology and Pediatrics, Mehta Children's Hospital, Chennai, Tamilnadu, India Abstract: Clinical, biochemical, and
Vijayakumar M, Nageswaran P, Tirukalathi OM, Sudha E, Priyadarshini S   +4 more
doaj  

Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis [PDF]

, 2016
Nephrocalcinosis describes the ectopic deposition of calcium salts in the kidney parenchyma. Nephrocalcinosis can result from a number of acquired causes, but also an even greater number of genetic diseases, predominantly renal, but also extra-renal ...
Ben Oliveira, Detlef Bockenhauer, Ekengren K, Em W, Gonlusen G, Hou J, Hufnagle KG, Ichiyama A, Lenarduzzi G, LiPuma J, Nishiyama S, Pahari A, Robert Kleta, Stephen B. Walsh, Wrong O, Wrong OM, Wrong OM, Wrong OM   +17 more
core   +1 more source

High Zn content of Randall's plaque: A μ-X-ray fluorescence investigation [PDF]

, 2011
Kidney stone disease, or nephrolithiasis, is a common ailment. Among the different risk factors usually associated with nephrolithiasis are dehydration, metabolic defects (especially with regard to calcium and oxalate).
Albouy, Pierre-Antoine, Bazin, Dominique, Carpentier, Xavier, Combes, Christèle, Daudon, Michel, Foy, Eddy, Mazouyes, Aurélie, Rouzière, Stephan   +7 more
core   +2 more sources