Results 91 to 100 of about 7,235,288 (192)

A PHEX Gene Mutation Is Responsible for Adult-Onset Vitamin D-Resistant Hypophosphatemic Osteomalacia: Evidence That the Disorder Is Not a Distinct Entity from X-Linked Hypophosphatemic Rickets1

, 1998
International audiencePrevious investigators described a kindred with an X-linked dominant form of phosphate wasting in which affected children did not have radiographic evidence of rickets, whereas older individuals were progressively disabled by severe
Oudet, Claudine, Strom, Tim, Speer, Marcy, Econs, Michael, Friedman, Nancy, Smith, John, Francis, Fiona, Ninomiya, James, Bergen, Heather, Rowe, Peter, Lee, Benjamin   +10 more
core   +1 more source

Flanking markers define the X-linked hypophosphatemic rickets gene locus

, 1993
X-linked hypophosphatemic rickets (HYP) is an X-linked dominant disorder characterized by decreased renal tubular phosphate reabsorption and consequent hypophosphatemia.
Pericak-Vance, M A, Barker, D F, Econs, M J, Norman, M, Speer, M C, Becker, P A, Taylor, A, Fain, P R, Drezner, M K   +8 more
core   +1 more source

The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene

, 1990
We undertook linkage analysis in four large North Carolina kindreds with X-linked hypophosphatemic rickets (HYP) using a newly defined polymorphic probe, derived from the 5' untranslated portion of the human glycine receptor (GLR).
Pericak-Vance, M A, Betz, H, Econs, M J, Bartlett, R J, Speer, M C, Drezner, M K   +5 more
core   +1 more source

Review Article: Impact of Growth Hormone Treatment on Height in Children with X-Linked Hypophosphatemic Rickets

مجلة كلية الطب
Background: X-linked hypophosphatemic rickets (XLHR) is the most frequent form of inherited rickets. In children, stunted growth and disproportionately short stature are frequently the early signs of XLHR.
Munib A. Al-Zubaidi , Wasnaa H. Abdullah
doaj   +1 more source

Metabolic and orthopedic management of X-linked vitamin D-resistant hypophosphatemic rickets

Journal of Children's Orthopaedics, 2008
Purpose Therapy of vitamin D-resistant hypophosphatemic rickets (VDXLR) consists of oral phosphate and vitamin D supplements. Bone deformities, pain, and small stature can occur even in children with good compliance, requiring surgical correction and ...
Sandro F. Fucentese, Thomas J. Neuhaus, Leonhard E. Ramseier, G. Ulrich Exner   +3 more
doaj   +1 more source

Cloning of large regions of mammalian genomes: The molecular genetics of X-linked hypophosphatemic rickets [PDF]

, 1995
This thesis describes two main projects, first the development of an alternative method to construct large insert libraries in a P1 vector, and this project led to the construction and use of P1 libraries made from the genomes of Schizosaccharomyces ...
Francis, Fiona Mary
core   +1 more source

A PAI‐1 antagonist ameliorates hypophosphatemia in the Hyp vitamin D‐resistant rickets model mouse

FEBS Open Bio
Congenital fibroblast growth factor 23 (FGF23)‐related hypophosphatemic rickets/osteomalacia is a rare bone metabolism disorder characterized by hypophosphatemia and caused by genetic abnormalities that result in excessive secretion of FGF23.
Cheng Qian, Nobuaki Ito, Kunikazu Tsuji, Shingo Sato, Katsushi Kikuchi, Toshitaka Yoshii, Toshio Miyata, Yoshinori Asou   +7 more
doaj   +1 more source

protein and caused X‐linked hypophosphatemic rickets in a Chinese family

, 2020
Background X‐linked hypophosphatemic rickets (XLH) is a heterogeneous genetic phosphate wasting disorder that occupies the majority of inheritable hypophosphatemic rickets (HR).
Yanran Liu, Peifeng Li, Yin Wang, Xiong Wang, HongChu Bao, Ying Liu, Baowei Li, Xiaodan Hao, Xiang Ao, Chan Shan   +9 more
core   +1 more source

NEW PERSPECTIVES ON THE BIOLOGY AND TREATMENT OF X-LINKED HYPOPHOSPHATEMIC RICKETS

Pediatric Clinics of North America, 1997
This article updates the practicing pediatrician's knowledge of the hypophophatemic disorders that may occur in children. The classic X-linked disorder is emphasized. Details of clinical manifestations, the wide spectrum of disease severity, and complications of the disorder in adults are reviewed.
openaire   +2 more sources

Management Of Hypophosphatemic Rickets With Oral Manifestations In Children

International Dental Journal
Introduction: Hypophosphatemic rickets (HR) is a metabolic disorder affecting bone and teeth. X-linked hypophosphatemic rickets (XLH) is the most common form, characterized by skeletal deformities and dental mineralization defects leading to pulpitis and
Yan Wang, Dingwei Ye
doaj   +1 more source