Results 31 to 40 of about 7,235,288 (192)

X-linked Hypophosphatemic Rickets

Medical Archives, 2013
The aim of this work was the presentation of one case with X-linked hypophosphatemic rickets.Diagnosis has been established based on the anamnesis, physical examination, anthropometric measurements, laboratory tests and radiological examination.A male patient (age 3 years) has been hospitalized due to the growth delay, bone deformity, bone pain and ...
Mehmedali, Azemi, Majlinda, Berisha, Selim, Kolgeci, Vlora, Ismaili-Jaha, Rina, Hoxha, Teuta, Hoxha-Kamberi   +5 more
openaire   +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, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin   +6 more
doaj   +1 more source

Scientific Production on Familial Hypophosphatemic Rickets in Scopus (2000-2022)

, 2023
An observational, descriptive, and cross-sectional study was conducted through a bibliometric analysis of the scientific output of Familial Hypophosphatemic Rickets published in journals indexed in Scopus.
Rodríguez Suárez, Julián, Gil-Peña, Helena, Corrales Reyes, Ibrain Enrique, Oro Carbajosa, Patricia, Fuente Pérez, Rocío, López García, José Manuel, Hernández-García, Frank   +6 more
core   +1 more source

The Muscle-Bone Relationship in X-Linked Hypophosphatemic Rickets [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2013
Context: We recently found that patients with X-linked hypophosphatemic rickets (XLH) have a muscle function deficit in the lower extremities. As muscle force and bone mass are usually closely related, we hypothesized that patients with XLH could also have a bone mass deficit in the lower extremities.
Veilleux, Louis-Nicolas, Cheung, Moira S., Glorieux, Francis H., Rauch, Frank   +3 more
openaire   +2 more sources

Bow leg deformity correction and lengthening with TSF system in an adolescent with hereditary hypophosphatemic rickets

Journal of Orthopaedic Reports, 2022
Background: X-linked hereditary hypophosphatemic rickets (XHPR) is the dominant form of hereditary rickets characterized by alteration of phosphate metabolism and defective mineralization of the growth cartilage and the newly formed bone collagen.
Megremis Panos, Megremis Orestis
doaj   +1 more source

Osteocytes and the pathogenesis of hypophosphatemic rickets

Frontiers in Endocrinology, 2022
Since phosphorus is a component of hydroxyapatite, its prolonged deprivation affects bone mineralization. Fibroblast growth factor 23 (FGF23) is essential for maintaining phosphate homeostasis and is mainly produced by osteocytes.
Miwa Yamazaki, Toshimi Michigami
doaj   +1 more source

CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets [PDF]

, 1998
CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets. This study demonstrates that a missense mutation in the voltage gated chloride channel, CLCN5, can cause X-linked renal failure ...
Vardaman M. Buckalew, Donna J. Rhodes, Conner, David A., Seidman, Jonathan G., Frederickson, Edward D., Rhodes, Donna J., Catherine L. Kelleher, Buckalew, Vardaman M., Seidman, Christine E., Christine E. Seidman, David A. Conner, Jonathan G. Seidman, Edward D. Frederickson, Kelleher, Catherine L.   +13 more
core   +1 more source

Regulation of Phosphate Transporters and Novel Regulator of Phosphate Metabolism

Endocrines, 2023
Phosphorus is essential for all living organisms. It plays an important role in maintaining biological functions, such as energy metabolism, cell membrane formation, and bone mineralization.
Megumi Koike, Minori Uga, Yuji Shiozaki, Ken-ichi Miyamoto, Hiroko Segawa   +4 more
doaj   +1 more source

Hypophosphatemic rickets: diagnosis and treatment [PDF]

Archives of Endocrinology and Metabolism
Hypophosphatemicrickets (HR) represents a heterogeneous group of disorders characterized by renal phosphate wasting, impaired bone mineralization, and skeletal deformities.
Hailey Bruneau, Clemens Bergwitz
doaj   +2 more sources

X-linked hypophosphatemic rickets: case report

Residência Pediátrica, 2022
INTRODUCTION: The X-linked hypophosphatemic rickets is considered the most common cause of rickets. It is an X-linked dominant disease, caused by a PHEX gene mutation. It is believed that the biochemical and bone mineralization changes because of the increase of phosphaturic factor, resulting from the PHEX genes inability to inactivate its substrate ...
Camila Gonçalves, Mayara Sales, Alessandra Cavalcante, Raissa Pereira, Milena Sousa, Luciana Aragão, Annelise Carvalho, Ana Paula Montenegro   +7 more
openaire   +1 more source