Results 21 to 30 of about 4,812 (192)

"Hypercalciuric hypophosphatemic rickets " [PDF]

Acta Medica Iranica, 2001
A 13 year- old girl had rickets clinically evident sicne she was 10 years of age. She received multiple doses of vitamin D3 without improvement.This patient manifested an unusal form of hypophosphatemic rickets with hypercalciuria. It is recommended that
Karamifar H, Amirhakimi GH   +1 more
doaj   +2 more sources

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl [PDF]

JCRPE
Autosomal recessive hypophosphatemic rickets (ARHR) type 2 (ARHR2) is a rare form of hypophosphatemic rickets (HR) caused by a variant of the gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1).
Han-Yi Lin, Ni-Chung Lee, Meng-Ju Melody Tsai, Ting-Ming Wang, Yi-Ching Tung   +4 more
doaj   +2 more sources

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets [PDF]

Case Reports in Genetics, 2015
X-linked hypophosphatemic rickets (XLH) is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. Inactivating mutations in the gene encoding phosphate-regulating gene with
Tetsuya Kawahara, Hiromi Watanabe, Risa Omae, Toshiyuki Yamamoto, Tetsuya Inazu   +4 more
doaj   +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, Subhankar Chowdhury, Satinath Mukhopadhyay, Sujoy Ghosh   +3 more
doaj   +2 more sources

Treatment with Minicircle DNA Expressing a FGF23 Fragment in a Clinically relevant Mouse Model of X-Linked Hypophosphatemic Rickets. [PDF]

Adv Sci (Weinh)
The pathogenic role of PHEX isn't fully determined, and there is no radical cure for X‐linked hypophosphatemic rickets (XLHR). This study makes the first attempt to perform gene therapy using a minicircle DNA (MC‐DNA) vector expressing a fragment of FGF23 (amino acids 180‐251) in Phex‐T1349C mice and suggests MC‐DNA as a promisingly safe and effective ...
Wu H, Zhao W, Chen X, Wang Y, Wei S, Xiang B, Shi Y, Li Z, Yao Y, Xie J, Qiu R, Shu M, Xu S, Chen P, Chen Z, Wu Y, Xia W, Gao L, Song Y, Zhao J, Xu C.   +20 more
europepmc   +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, Ana Catarina Barbosa Rodrigues, Ana Patrícia Costa-Reis, Maria Rosário Arriaga Câmara Stone   +3 more
doaj   +1 more source

Familial hypophosphatemic rickets

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
S Vivekanandan
doaj   +3 more sources

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

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, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Hypophosphatemic rickets and osteomalacia [PDF]

Arquivos Brasileiros de Endocrinologia & Metabologia, 2006
The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low ...
Menezes Filho, Hamilton de, Castro, Luiz Claudio G. de, Damiani, Durval   +2 more
openaire   +4 more sources