Results 71 to 80 of about 7,727 (215)

New insights into NPP1 function:Lessons from clinical and animal studies [PDF]

, 2012
The recent elucidation of rare human genetic disorders resulting from mutations in ectonucleotide pyrophosphotase/phosphodiesterase (ENPP1), also known as plasma cell membrane glycoprotein 1 (PC-1), has highlighted the vital importance of this molecule ...
Huesa, C, Mackenzie, N C W, Macrae, V E, Rutsch, F   +3 more
core   +1 more source

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

The effect of fluoride on enamel and dentin formation in the uremic rat incisor [PDF]

, 2008
Renal impairment in children is associated with tooth defects that include enamel pitting and hypoplasia. However, the specific effects of uremia on tooth formation are not known.
A Al Nowaiser, AC Karim, Antonius L. J. J. Bronckers, CJ Spak, DM Lyaruu, Donacian M. Lyaruu, E Hossny, Fernando Santos, GP Wysocki, H Husdan, HH Schiffl, IB Salusky, JH Nunn, K Abe, K Nasstrom, M Torra, MB Leonard, MJ Koch, O Fejerskov, P Farge, Pamela DenBesten, PK Denbesten, PN Scutellari, Robert Mathias, RS Mathias, RS Mathias, T Murayama, VS Lucas, W Beertsen   +28 more
core   +1 more source

Head Posture and Upper Spine Morphological Deviations in Patients With Hypermobile Ehlers–Danlos Syndrome

Orthodontics &Craniofacial Research, Volume 28, Issue 3, Page 555-563, June 2025.
ABSTRACT Objective To compare head posture and upper spine morphology in hypermobile Ehlers‐Danlos syndrome (hEDS) patients with healthy controls with neutral occlusion. Materials and Methods The study consisted of 27 hEDS patients (23 females, 4 males, mean age 36.41 ± 11.35) and 39 healthy controls (28 females, 11 males, mean age 31.85 ± 11.35) with ...
Ashkan Jasemi, Eva Fejerskov Lauridsen, Liselotte Sonnesen   +2 more
wiley   +1 more source

A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000–2022)

Orphanet Journal of Rare Diseases
Background Familial hypophosphatemic rickets are disabling conditions that negatively impact physical functioning, activities of daily living, mental health and social life.
Frank Hernández-García, Helena Gil-Peña, José M. López, Rocío Fuente, Patricia Oro Carbajosa, Ibraín Enrique Corrales-Reyes, Julián Rodríguez Suárez   +6 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

Ferric Carboxymaltose (FCM)–Associated Hypophosphatemia (HPP): A Systematic Review

American Journal of Hematology, Volume 100, Issue 5, Page 840-846, May 2025.
ABSTRACT Background Since 2015, ferric carboxymaltose (FCM), an intravenous (IV) iron formulation used for treating iron deficiency anemia (IDA), has been associated with an increasing number of reported hypophosphatemia (HPP) cases. Information on HPP clinical manifestations and incidence has not been reviewed.
Joseph Magagnoli, Kevin Knopf, William J. Hrushesky, Kenneth R. Carson, Charles L. Bennett   +4 more
wiley   +1 more source

X-linked vitamin D-resistant rickets: 12 years of follow-up

The Pan African Medical Journal, 2018
Rickets are abnormalities of mineralization that can lead to bone fractures and deformities. Vitamin-resistant rickets is defined as any rickets not prevented by regular, early and prolonged administration of vitamin D and not cured by a sufficient total
Ahmed Anas Guerboub, Souad Moussaoui, Jad Issouani, Yassine Errahali, Ghizlaine Belmejdoub   +4 more
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

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source