Results 61 to 70 of about 11,294 (209)
Clinical Genetics, Volume 108, Issue 6, Page 696-707, December 2025.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source
FEBS Letters, Volume 599, Issue 22, Page 3208-3243, November 2025.Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu +17 more
wiley +1 more source
Clinical correlation between hypercalciuria and nocturnal enuresis
Saudi Journal of Kidney Diseases and Transplantation, 2011 Hypercalciuria may present with dysuria, urinary incontinence and nocturnal enuresis (NE). To determine the frequency of hypercalciuria in NE patients and normally continent children, we studied 122 consecutive pre- school children with NE referred to ...
Ehsan Valavi +3 more
doaj
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
Isolated hypercalciuria with mutation in CLCN5: Relevance to idiopathic hypercalciuria [PDF]
, 2000 Steven J. Scheinman +11 more
openalex +1 more source
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 +4 more
doaj
Idiopathic Hypercalciuria: Risk Factors for Symptomatic Forms in Children in the Fundación Cardioinfantil [PDF]
Revista Ciencias de la Salud, 2008 Idiopathic Hypercalciuria (IH) is a metabolicdisease, in most cases asymptomatic, but some patientsexpress complaints consistent with hematuria,polaquiuria, dysuria, urinary incontinence,enuresis and abdominal or back pain, that affectsactivities of ...
Carolina Ulloa Barón, MD, esp.
doaj
Efficacy of surgical treatment of renal form of hyperparathyroidism [PDF]
Саратовский научно-медицинский журнал, 2018 Objective: to study the efficacy of surgical treatment of primary hyperparathyroidism in risk of uronephrolithiasis progression. Material and Methods. The research involved 55 patients, the biochemical and clinical parameters before and after treatment ...
Kovalenko Yu.V. +4 more
doaj
Hypercalciuria in Children with Monosymptomatic Nocturnal Enuresis
Haseki Tıp Bülteni, 2014 Aim: Nocturnal enuresis is a common problem in childhood. We aimed to evaluate the role of urinary calcium excretion in children with monosymptomatic nocturnal enuresis (MNE). Methods: This study included 60 children with MNE and 30 healthy controls. In
Mahmut Çivilibal +2 more
doaj +1 more source