Results 11 to 20 of about 187,796 (197)

Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets. [PDF]

Proceedings of the National Academy of Sciences, 1976
A new dominant mutation in the laboratory mouse, hypophosphatemia (gene symbol Hyp), has been identified. The Hyp gene is located on the X-chromosome and maps at the distal end.
Eicher, E M, Scriver, C R, Southard, J L, Glorieux, F H   +3 more
core   +4 more sources

Incidence of Hypophosphatemia after Ferric Carboxymaltose Treatment: Single Center Experience [PDF]

, 2021
Aim:The aim of this study was to evaluate the incidence of hypophosphatemia after ferric carboxymaltose (FCM) infusion and the factors affecting hypophosphatemia.Materials and Methods:Ninety-two patients who received FCM treatment for iron deficiency ...
Esra TERZİ DEMİRSOY, Terzi Demirsoy, Esra   +1 more
core   +1 more source

Intestinal phosphate transport in familial hypophosphatemia [PDF]

Pediatric Research, 1974
Renal inorganic phosphate (Pi) transport is impaired in familial hypophosphatemic rickets (FHR). Short et al. (Science,179, 700, 1973) have reported that the mutation was also expressed in the gut. We have examined Pi uptake in vitro by jejunal mucosa from 7 (4 female, 3 male) FHR mutants (from 5 pedigrees) and 6 controls.
F H Glorieux, R Travers, E E Delvin, C L Morin, R Poirier, J R Ducharme   +5 more
openaire   +2 more sources

Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

, 2021
Background: The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of ...
Borghi C, Biasucci G, EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)   +2 more
core   +1 more source

Uncovering genetic causes of hypophosphatemia [PDF]

, 2023
Background Chronic hypophosphatemia can result from a variety of acquired disorders, such as malnutrition, intestinal malabsorption, hyperparathyroidism, vitamin D deficiency, excess alcohol intake, some drugs, or organ transplantation.
Fátima Mateos, Maiztegi, Ainhoa, Lavín Gómez, Bernardo Alio, Ainhoa Maiztegi, Piedra, María, Pablo Docio, María Piedra, Bernardo A. Lavín, Domingo Gonzalez‐Lamuño, Puente Ruiz, Nuria, Mateos, Fátima, Riancho Moral, José Antonio, Valero Díaz de Lamadrid, Carmen, Ana Isabel Vega, García Unzueta, María Teresa, González-Lamuño Leguina, Domingo, Nuria Puente, Carmen Valero, Vega, Ana Isabel, Riancho Zarrabeitia, Leyre, María T. García Unzueta, José A. Riancho, Docio Pérez, Pablo, Leyre Riancho‐Zarrabeitia   +23 more
core   +1 more source

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. [PDF]

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are ...
Borghi Claudio, European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration, Dharmayat Kanika Inamdar   +2 more
core   +4 more sources

Clinical presentation of Crohn's disease. Association between familial disease, smoking, disease phenotype, extraintestinal manifestations and need for surgery [PDF]

, 2005
Background/Aims: Recent molecular data suggest that genetic factors may underlie the disease heterogeneity observed in Crohn's disease (CD). It was also suggested that familial inflammatory bowel disease (IBD) is a homogenous subgroup, phenotypically ...
Gasztonyi, Beáta, Kovács, Attila, Figler, Mária, Szalay, Ferenc, Cseh, J., Mikó, Éva, Horváth, Gábor, Szekeres Barthó, J., Papp, János, Lakatos, Péter László, Molnár, Tamás, Kovács, Ágota, Lakatos, Péter, Hunyady, Béla, Tulassay, Zsolt, Kisbenedek, A. G., Lakatos, László   +16 more
core   +3 more sources

Clinical and Genetic Characteristics of 153 Chinese Patients With X-Linked Hypophosphatemia

Frontiers in Cell and Developmental Biology, 2021
X-linked hypophosphatemia (XLH) is caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene, resulting in an excess of circulating intact fibroblast growth factor-23 (iFGF-23) and a waste of renal phosphate.
Xiaoyun Lin, Shanshan Li, Zhenlin Zhang, Hua Yue   +3 more
doaj   +1 more source

Refeeding Hypophosphatemia in Adolescents With Anorexia Nervosa: A Systematic Review [PDF]

, 2013
The rate of adolescents presenting with anorexia nervosa (AN) is increasing. Medically unstable adolescents are admitted to the hospital for nutrition restoration. A lack of global consensus on appropriate refeeding practices of malnourished patients has
Nicholls, D, Nicholls, Dasha, O'Connor, Graeme, O'Connor, G   +3 more
core   +1 more source

The Factors That Cause Hypophosphatemia in Patients Receivig Clinical Nutrition Treatment

, 2022
Objective:One of the most important issues to be considered in patients who are started on nutritional therapy is refeeding syndrome (RS), which can occur within the first four days. Hypophosphatemia (serum phosphorus level
ABBASOĞLU, OSMAN, Cakir, Burcu Kelleci, Burcu Kelleci Çakır, Ayhan, Hatice, Hatice Ayhan, Akcay, Kezban, Osman Abbasoğlu, Kezban Akçay   +7 more
core   +1 more source