Results 71 to 80 of about 4,220 (205)

Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

Остеопороз и остеопатии, 2018
Osteogenesis imperfecta (OI) and X-linked hypophosphataemia (XLH) are rare genetic diseases, which lead to childhood-onset bone fragility, low-trauma fractures and limb deformities. OI occurs as a result of impaired type 1 collagen synthesis at different
Irina Yu. Popova, Tatiana A. Grebennikova, Anatoly N. Tiulpakov, Kristina S. Kulikova, Liudmila Y. Rozhinskaya, Zhanna E. Belaya   +5 more
doaj   +1 more source

TRNT1 deficiency: clinical, biochemical and molecular genetic features [PDF]

, 2016
BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs).
Chong, WK, Clayton, PT, Fassone, E, Footitt, E, Kleta, R, Mills, PB, Minczuk, M, Niazi, R, Pearce, S, Plagnol, V, Powell, CA, Rahman, S, Saldanha, JW, Taanman, JW, Wedatilake, Y   +14 more
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Ventricular bigeminy and trigeminy caused by hypophosphataemia during diabetic ketoacidosis treatment: a case report

Italian Journal of Pediatrics, 2019
Background Hypophosphatemia has many causes, and is often encountered during DKA (Diabetic Ketoacidosis) treatment. However, it rarely requires clinical intervention.
Konrad Miszczuk, Joanna Mroczek-Wacinska, Robert Piekarski, Beata Wysocka- Lukasik, Renata Jawniak, Iwona Ben-Skowronek   +5 more
doaj   +1 more source

Lamivudine, Entecavir, or Tenofovir Treatment of Hepatitis B Infection: Effects on Calcium, Phosphate, FGF23 and Indicators of Bone Metabolism

Annals of Hepatology, 2017
Background. Patients with chronic hepatitis B virus (HBV) are often treated with nucleoside/nucleotide antiviral agents and metabolic bone toxicity is a possible concern.Objective. To determine the relationships between fibroblast growth factor 23 (FGF23)
Ramesh Saeedi, Ali Mojebi-Mogharar, Supna K. Sandhu, Joshua A. Dubland, Jo-Ann Ford, Masoud Yousefi, Morris Pudek, Daniel T. Holmes, Siegfried R. Erb, Wing C. Peter Kwan, David L Kendler, Eric M. Yoshida   +11 more
doaj   +1 more source

Dasatinib induces fast and deep responses in newly diagnosed chronic myeloid leukaemia patients in chronic phase : clinical results from a randomised phase-2 study (NordCML006) [PDF]

, 2014
Peer ...
Dreimane, Arta, Ehrencrona, Hans,, Gedde-Dahl, Tobias, Gjertsen, Bjorn Tore, Hjorth-Hansen, Henrik, Hoglund, Martin, Koskenvesa, Perttu, Lotfi, Kourosh, Lund University., Lund University., Lund University., Majeed, Waleed, Markevarn, Berit, Mustjoki, Satu, Ohm, Lotta, Olsson-Stromberg, Ulla, Porkka, Kimmo, Remes, Kari, Richter, Johan,, Simonsson, Bengt, Soderlund, Stina, Stenke, Leif, Suominen, Merja   +22 more
core   +3 more sources

Genetics of calcium homeostasis in humans: continuum between monogenic diseases and continuous phenotypes [PDF]

, 2015
Extracellular calcium participates in several key physiological functions, such as control of blood coagulation, bone calcification or muscle contraction.
Bonny, Olivier, Bochud, Murielle
core   +1 more source

Severe falciparum malaria with hypophosphataemia and presumed hypophosphatemia induced rhabdomyolysis: a case report

Sri Lankan Journal of Infectious Diseases, 2018
Malaria is eliminated from Sri Lanka, yet cases contracted overseas are still encountered in the country. It is therefore important to be vigilant of possible complications of severe malaria.
M Perera, V Samarawickrama, K Lokuketagoda, K Thirumavalawan   +3 more
doaj   +1 more source

Vitamin D and cardiovascular health [PDF]

, 2016
It is well-known that vitamin D supplementation improves bone strength and deficiency leads to rickets in children and osteoporosis in adults.1 Through observational studies it was noted that vitamin D deficiency is an independent risk factor for ...
Bonnici, Maria
core  

Cytomorphology, osmotic fragility, glucose-6-phosphate dehydrogenase and oxidant/antioxidant status in postparturient haemoglobinuria in dairy cattle and buffaloes

Bulgarian Journal of Veterinary Medicine
The present study was carried out to elucidate the role of blood phosphorus (P), erythrocytic glucose-6-phosphate dehydrogenase (G6PD), glutathione peroxidase (GSH-Px), malonaldehyde (MDA), and nitric oxide (NO) on the integrity of the cell membranes of ...
A. I. Hassanin, M. H. Karam , N.-E. M. Aref   +2 more
doaj   +1 more source

Clinical, haematological and some biochemical variations hypophosphataemia in buffaloes before and after treatment at Assiut Government

Journal of Veterinary Medical Research, 2007
A total number of 28 buffaloes aged between 5-7years, body weight ranged between 400-500 kg, and belonged to private farms at Assiut Governorate constituted the materials of this study. Twenty of them showed the classical signs of hypophosphataemia while
M. E Radwan, H. Z. Rateb
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