Results 91 to 100 of about 4,392 (235)

Molecular and Biochemical Aspects of Hypophosphatemic Rickets: An Updated Review [PDF]

International Journal of Basic Science in Medicine, 2017
Rickets is associated with aberrant mineralization in growth plates leading to the deformity of bone structure. The two main types of rickets are phosphopenic and calcipenic rickets. Phosphopenic rickets is found in a variety of sorts; the most common is
Fateme Asadzadeh Manjili, Mohammad Hosein Bakhshi Aliabad, Seyed Mehdi Kalantar, Afsaneh Sahebzamani, Amin Safa   +4 more
doaj   +1 more source

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations [PDF]

, 2015
Background: Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecular
A Linde, A Rejjal, AE Kan, Alan J Mighell, Ana Carolina Acevedo, AX Acosta, C Chaussain-Miller, C Gaucher, Caroline Lourenço de Lima, Chris F Inglehearn, Claire E L Smith, Clare V Logan, CM Giachelli, Colin A Johnson, D Chitayat, D Nalbant, David A Parry, E Katchburian, FK Ababneh, G Hulskamp, G Jaureguiberry, GS Kochar, HM Kingston, HO Ishikawa, J Dong, J Hao, J Raine, James A Poulter, K Al-Mane, KA Al Mane, L Ye, LI Al-Gazali, Lilian M Paula, Luiz Claudio Castro, LW Fisher, M Dure-Molla de la, M Fradin, M Koob, MA DePristo, MA Simpson, MA Simpson, P Vogel, Paulo Marcio Yamaguti, PJ Patel, Priscila Gomes Alves, PS Hart, S Takeyari, SA Shalev, SH Rafaelsen, SK Wang, SK Wang, SM Hebsgaard, T Gunes, T Mahafza, T Sreenath, V Faundes, VS Tagliabracci, X Wang, X Wang, X Wang, X Wang, Y Kinoshita   +61 more
core   +2 more sources

Tertiary Hyperparathyroidism Secondary to X-linked Hypophosphatemic Rickets

World Journal of Endocrine Surgery, 2017
ABSTRACT Tertiary hyperparathyroidism is a rare complication of X-linked hypophosphatemic rickets. The surgical treatment is already unclear. How to cite this article Ruiz EC, Cebrián JMF, Vega L, Linacero S, Celi E, Quintáns A. Tertiary Hyperparathyroidism Secondary to X-linked Hypophosphatemic Rickets. World J Endoc Surg 2017;9(1):24-26.
Jose Maria Fernandez Cebrian, Enrique Colás Ruiz, Laura Vega, Santiago Linacero, Edgardo Celi, Antonio Quintáns   +5 more
openaire   +1 more source

Heterozygous Hereditary Vitamin D‐Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis

Case Reports in Endocrinology, Volume 2025, Issue 1, 2025.
This case report is centered on an atypical presentation of Hereditary Vitamin D‐dependent Rickets 2A (VDDR2A), a rare disorder caused by defects in the gene encoding the vitamin D receptor (VDR). While this disorder is primarily autosomal recessive in inheritance, this case demonstrates that a single heterozygous variant in the VDR gene could be ...
Risa Goldberg, Gunjan Umarji, Serge Jabbour, Hyunsik Kang   +3 more
wiley   +1 more source

Targeting Fibroblast Growth Factor 23 Signaling with Antibodies and Inhibitors, Is There a Rationale?

Frontiers in Endocrinology, 2018
Fibroblast growth factor 23 (FGF23) is a phosphotropic hormone mainly produced by bone. FGF23 reduces serum phosphate by suppressing intestinal phosphate absorption through reducing 1,25-dihydroxyvitamin D and proximal tubular phosphate reabsorption ...
Seiji Fukumoto
doaj   +1 more source

Genetic evidence of serum phosphate-independent functions of FGF-23 on bone [PDF]

, 2011
Maintenance of physiologic phosphate balance is of crucial biological importance, as it is fundamental to cellular function, energy metabolism, and skeletal mineralization.
Bergwitz, Clemens, Erben, Reinhold G., Kim, Somi, Lanske, Beate Klara Maria, Razzaque, Mohammed Shawkat, Schüler, Christiane, Sitara, Despina, Taguchi, Takashi   +7 more
core   +1 more source

LOCALISATION OF THE X-LINKED HYPOPHOSPHATAEMIC RICKETS GENE [PDF]

Pediatric Research, 1986
Cloned human X chromosome fragments identifying DNA sequence polymorphisms have been used as genetic markers in linkage studfes to localise the abnormal gene that causes X-linked hypophospbataemic rickets. These linkage studies were performed in 11 families in which the disease had occured in 3 or more generations.
Thakker, R, Davies, K, Read, A, Glorieux, F, Oriordan, J   +4 more
openaire   +2 more sources

Orthodontic treatment in children and adolescent patients with X‐linked hypophosphatemia: A case–control study

Orthodontics &Craniofacial Research, Volume 27, Issue 5, Page 697-703, October 2024.
Abstract Objectives X‐linked hypophosphatemia (XLH) is a rare genetic disease that disturbs bone and teeth mineralization. It also affects craniofacial growth and patients with XLH often require orthodontic treatment. The aim of this study was to describe changes in the dental health of XLH children during orthodontic treatment compared with those in ...
Yann Janssens, Martin Biosse Duplan, Agnès Linglart, Anya Rothenbuhler, Catherine Chaussain, Elvire Le Norcy   +5 more
wiley   +1 more source

Papilledema in the Setting of X-Linked Hypophosphatemic Rickets with Craniosynostosis

Case Reports in Ophthalmology, 2011
Purpose: Introduction to the ophthalmic literature of an unusual cause of papilledema and subsequent optic atrophy: X-linked hypophosphatemic rickets (XLH).
Lora R. Dagi Glass, Teodoro Forcht Dagi, Linda R. Dagi   +2 more
doaj   +1 more source

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L GATM variant and study of organoids towards treatment

JIMD Reports, Volume 65, Issue 5, Page 341-353, September 2024.
Abstract Autosomal dominant Fanconi syndrome due to a GATM variant (GATM‐FS), causes accumulation of misfolded arginine‐glycine amidinotransferase (AGAT) in proximal renal tubules leading to cellular injury. GATM‐FS presents during childhood and progresses to end‐stage kidney disease (ESKD) in adults.
Ignacio Portales‐Castillo, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah. Goo, Wen Zhou, Avram Z. Traum, Ariella Coler‐Reilly, Benjamin D. Humphreys, Roberto Civitelli, Harald Jüppner, Andrew L. Lundquist, Peter Seres, Andrew S. Allegretti, Saadet Mercimek‐Andrews   +15 more
wiley   +1 more source