Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant [PDF]
Journal of Investigative Medicine High Impact Case Reports, 2015 Loss-of-function mutations in the p hosphate regulating gene with h omologies to e ndopeptidases on the X -chromosome ( PHEX ) have been causally associated with X-linked hypophosphatemic rickets (XLHR).
Kok Siong Poon BSc +4 more
doaj +2 more sources
A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2018 X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate ...
Misun Yang +6 more
doaj +3 more sources
Mutant FGF-23 Responsible for Autosomal Dominant Hypophosphatemic Rickets Is Resistant to Proteolytic Cleavage and Causes Hypophosphatemia in Vivo [PDF]
Endocrinology, 2002 Seijii Fukumoto
exaly +2 more sources
Hypophosphatemic rickets: A case of recurrent pathological fractures
Indian Journal of Endocrinology and Metabolism, 2012 Introduction: Renal phosphate-wasting disorders are the most common form of hereditary rickets and osteomalacia in western countries, but are rarely reported in India. Therefore, we report here a case of hypophosphatemic rickets.
Arjun Baidya +3 more
doaj +2 more sources
Familial hypophosphatemic rickets
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011 S Vivekanandan
doaj +2 more sources
X-Linked Hypophosphatemic Rickets: A Pediatric Case Report [PDF]
Revista Portuguesa de Nefrologia e Hipertensão, 2022 X-linked hypophosphatemic rickets is a monogenic disease, characterized by hyperphosphaturia and hypophosphatemia. Due to its rarity and wide phenotypic variability, a diagnostic delay is common in X-linked hypophosphatemic rickets.
Isabel Rodrigues Leal Moitinho de Almeida +3 more
doaj +1 more source
A pathogenic variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2021 X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia.
In Hwa Jeong, Jae-Ho Yoo, Namhee Kim
doaj +1 more source
Deformity Correction in an Adult With Hypophosphatemic Rickets. [PDF]
CureusMohabbat A, Alharbi SS, Muwanis MM.
europepmc +3 more sources
8298 PrimaryHyperparathyroidism after Initiation of Burosumab in a Patient with X-linked Hypophosphatemic Rickets [PDF]
J Endocr SocAbdullah Melhim +2 more
europepmc +3 more sources
Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source