Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports
Frontiers in Medicine, 2018 Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis,
Min Wen +10 more
doaj +1 more source
Oral health status and associated lifestyle behaviors in a sample of Iranian adults : an exploratory household survey [PDF]
, 2020 Background Poor oral hygiene can lead to serious diseases, such as periodontitis, tooth decay, pain and discomfort in teeth or gums, infections, and loss of teeth.
Bagheri, Raziollah +5 more
core +2 more sources
A retrospective case-control analysis of the outpatient expenditures for western medicine and dental treatment modalities in CKD patients in Taiwan. [PDF]
PLoS ONE, 2014 BACKGROUND: To determine if expenditures for dentistry (DENT) correlate with severity of chronic kidney disease (CKD). METHODS: A total of 10,457 subjects were enrolled from January 2008 to December 2010, divided into three groups: healthy control (HC ...
Ren-Yeong Huang +4 more
doaj +1 more source
A Systematic Review of Dental Disease in Patients Undergoing Cancer Therapy [PDF]
, 2010 Introduction: The purpose of this systematic review was to evaluate the literature and update our current understanding of the impact of present cancer therapies on the dental apparatus (teeth and periodontium) since the 1989 NIH Development Consensus ...
Brian D. Hodgson +8 more
core +4 more sources
Orphanet Journal of Rare Diseases, 2022 Background Individuals with glycogen storage disease IIIa (GSD IIIa) (OMIM #232400) experience muscle weakness and exercise limitation that worsen through adulthood.
Philip J. Hennis +7 more
doaj +1 more source
Heterogeneity in the processing of ClC-5 mutants related to Dent disease [PDF]
, 2011 International audienceMutations in the electrogenic Cl-/H+ exchanger ClC-5 gene CLCN5 are frequently associated with Dent disease, an X-linked recessive disorder affecting the proximal tubules. Here, we investigate the consequences in X.
Defontaine, Nadia +9 more
core +4 more sources
Salivary pH, calcium, phosphorus and selected enzymes in healthy dogs: A pilot study [PDF]
, 2017 Background Saliva in dogs, as in humans, is a complex fluid secreted by different salivary glands in the oral cavity to protect the oral mucosa and teeth.
Badon, Tamara +5 more
core +2 more sources
Recurring renal lithiasis due to Dent’s disease
Urology Case Reports, 2023 Dent's disease is a rare cause of hypercalciuria and recurring urolithiasis. Patients with this disease have elevated bone resorption due to the presence of parathormone (PTH) in the urine. We describe the case of a 21-year-old male with hypercalciuria, elevated bone resorption and recurring bilateral urolithiasis that achieves radiological and ...
Miquel Amer-Mestre +9 more
openaire +4 more sources
Infant and child oral health risk status correlated to behavioral habits of parents or caregivers: a survey in central Italy [PDF]
, 2017 Aim: The aim of this survey was to evaluate the knowledge and awareness of parents and caregivers about potential oral health risk factors for their children in their first months of life (3–30 months).
American +13 more
core +2 more sources
Dent Disease with Mutations in OCRL1 [PDF]
The American Journal of Human Genetics, 2005 Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe syndrome, a multisystem disease characterized by renal tubulopathy, congenital cataracts, and mental retardation, is associated with mutations in the gene OCRL1, which encodes a phosphatidylinositol 4,5-bisphosphate (PIP(2)) 5 ...
Hoopes, Richard R. +11 more
openaire +2 more sources