Results 31 to 40 of about 2,043 (190)

Could the ENPP1 p.D85H Mutation be Associated with Hypophosphatemic Rickets?

Bezmiâlem Science, 2018
Objective:A 35-year-old Turkish male patient was referred to us with a year-long history of joint paint and congenital hearing loss. Family history revealed more family members with hearing loss without paraneoplastic syndrome.
Ender COŞKUNPINAR, Sakin TEKİN, Şükrü PALANDUZ, Hakan AVCI, Kıvanç CEFLE, N. Ozan TİRYAKİOĞLU, Ayşe KUBAT ÜZÜM, Refik TANAKOL, İlhan SATMAN   +8 more
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Iron and fibroblast growth factor 23 in X-linked hypophosphatemia [PDF]

, 2014
Background Excess fibroblast growth factor 23 (FGF23) causes hypophosphatemia in autosomal dominant hypophosphatemic rickets (ADHR) and X-linked hypophosphatemia (XLH). Iron status influences C-terminal FGF23 (incorporating fragments plus intact FGF23)
Econs, Michael J., Gray, Amie, Imel, Erik A., Padgett, Leah   +3 more
core   +1 more source

Genetic diseases of renal phosphate handling [PDF]

, 2006
UNLABELLED: Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1 ...
Wagner, Carsten A., Rubio-Aliaga, Isabel, Biber, Jürg, Hernando, Nati   +3 more
core   +3 more sources

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations [PDF]

, 2018
X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH.
Casey, A, Chesher, D, Darbar, U, Lachmann, RH, Murphy, E, Oddy, M, Ryan, A, Sayal, P, Sechi, A, Simister, C, Waters, A, Wedatilake, Y   +11 more
core   +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

The role of FGF23/Klotho in mineral metabolism and chronic kidney disease [PDF]

, 2013
Chronic kidney disease (CKD) is a global health burden of growing incidence and prevalence. As renal function declines disturbances in mineral metabolism, such as hyperphosphatemia and secondary hyperparathyroidism, inevitably develop. These metabolic
Olauson, Hannes
core   +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

Increased Metabolic Rate in X-linked Hypophosphatemic Mice [PDF]

, 1986
Hyp mice are a model for human X-linked hypophosphatemia, the most common form of vitamin D-resistant rickets. It has previously been observed that Hyp mice have a greater food consumption per gram body weight than do normal mice.
Meyer, M. H., Meyer, Ralph A., Vaughn, Linda K.   +2 more
core   +1 more source

An Unusual Combination of Neurological Manifestations and Sudden Vision Loss in a Child with Familial Hyperphosphatemic Tumoral Calcinosis [PDF]

, 2019
Hyperphosphatemia in the absence of renal failure is an unusual occurrence, particularly in children, but is a common primary feature of familial hyperphosphatemic tumor calcinosis.
Acton, Dena, Evans, Michael J., Gray, Amie K., Ichikawa, Shoji, Kekunnaya, Ramesh, Lingappa, Lokesh, Madarasu, Rajsekara Chakravarthi, Siddaiahagari, Sirisharani   +7 more
core   +1 more source