Results 21 to 30 of about 76,665 (295)

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Journal of Bone and Mineral Research, 2021
Generalized arterial calcification of infancy (GACI) is a rare disorder caused by ENPP1 or ABCC6 variants. GACI is characterized by low pyrophosphate, arterial calcification, and high mortality during the first year of life, but the natural course and ...
Carlos R Ferreira, Kristina Kintzinger, Mary E. Hackbarth, Ulrike Botschen, Y. Nitschke, M. Z. Mughal, G. Baujat, D. Schnabel, E. Yuen, W. Gahl, R. Gafni, Qing Liu, P. Huertas, G. Khursigara, F. Rutsch   +14 more
semanticscholar   +1 more source

Hereditary hypophosphatemic rickets with hypercalciuria

Definitions, 2020
An autosomal recessive form of hypophosphatemic rickets caused by inactivating mutation(s) in the SLC34A3 gene, encoding sodium-dependent phosphate transport protein 2C, a protein involved in maintenance of inorganic phosphate concentration in the kidney.

semanticscholar   +1 more source

Serum 25-hydroxyvitamin D requirements to prevent nutritional rickets in Nigerian children on a low-calcium diet-a multivariable reanalysis.

American Journal of Clinical Nutrition, 2021
BACKGROUND Nutritional rickets is believed to result from the interaction of inadequate serum 25-hydroxyvitamin D [25(OH)D] concentration and dietary calcium intake, but this interaction has not been confirmed in children with rickets.
C. Sempos, R. Durazo-Arvizu, P. Fischer, C. Munns, J. Pettifor, T. Thacher   +5 more
semanticscholar   +1 more source

THE SURGERY OF RICKETS. [PDF]

JAMA: The Journal of the American Medical Association, 1902
Out of 42,124 new cases applying for treatment in the ten years, 1890-1899, at the orthopedic clinic of the Hospital for the Ruptured and Crippled, 6,583, or over 15 per cent., suffered from rickets or the deformities most frequently caused by rickets, such as bow-legs, knock-knees and pigeon breast.
Henry Ling Taylor
openalex   +5 more sources

Diagnosis and Management of Vitamin D Dependent Rickets

Frontiers in Pediatrics, 2020
The term “vitamin D dependent rickets” describes a group of genetic disorders that are characterized by early-onset rickets due to the inability to maintain adequate concentrations of active forms of vitamin D or a failure to respond fully to activated ...
M. Levine
semanticscholar   +1 more source

Rickets [PDF]

Canadian Medical Association Journal, 2006
What's your call? When enlargement of this boy's costochondral junctions was noted incidentally on a chest radiograph, additional skeletal images were ordered. They revealed widening, fraying, cupping and irregularity of the metaphyseal border of his distal radius and ulna (Fig. 1), with osteomalacia of his long bones. Fig.
Monique Robert, Ana Carceller Garcia, Maria Otilia Dobrescu   +2 more
openaire   +3 more sources

A novel pathogenic mutation of the CYP27B1 gene in a patient with vitamin D-dependent rickets type 1: a case report [PDF]

, 2014
BACKGROUND: Rickets can occur due to Vitamin D deficiency or defects in its metabolism. Three rare genetic types of rickets with different alterations of genes have been reported, including: Vitamin D dependent rickets type 1, Vitamin D dependent rickets
Abdulrahman MH Al Nemri, Ahmed Al Boukai, Ali Abdu N Al haboob, Ali Al Zahrani, Amir MI Babiker, Hanan Habib, Iman Al Gadi, Nasir AM Al-Jurayyan   +7 more
core   +1 more source

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

Hormone Research in Paediatrics, 2016
Background: Vitamin D and calcium deficiencies are common worldwide, causing nutritional rickets and osteomalacia, which have a major impact on health, growth, and development of infants, children, and adolescents; the consequences can be lethal or can ...
C. Munns, Nick Shaw, Mairead Kiely, Bonny Specker, Tom D. Thacher, Keiichi Ozono, T. Michigami, D. Tiosano, M. Z. Mughal, O. Mäkitie, L. Ramos-Abad, Leanne M. Ward, L. A. DiMeglio, N. Atapattu, H. Cassinelli, Christian Braegger, J. Pettifor, Anju Seth, Hafsatu Wasagu Idris, V. Bhatia, Junfen Fu, G. Goldberg, Lars Sävendahl, Rajesh Khadgawat, Pawel Pludowski, Jane Maddock, Elina Hyppönen, A. Oduwole, E. Frew, Magda Aguiar, Ted Tulchinsky, Gary Butler, W. Högler   +32 more
semanticscholar   +1 more source

Rickets

Nature Reviews Disease Primers, 2017
Rickets is a bone disease associated with abnormal serum calcium and phosphate levels. The clinical presentation is heterogeneous and depends on the age of onset and pathogenesis but includes bowing deformities of the legs, short stature and widening of joints. The disorder can be caused by nutritional deficiencies or genetic defects.
Thomas O, Carpenter, Nick J, Shaw, Anthony A, Portale, Leanne M, Ward, Steven A, Abrams, John M, Pettifor   +5 more
openaire   +3 more sources

Prevention of the disrupted enamel phenotype in Slc4a4-null mice using explant organ culture maintained in a living host kidney capsule. [PDF]

, 2014
Slc4a4-null mice are a model of proximal renal tubular acidosis (pRTA). Slc4a4 encodes the electrogenic sodium base transporter NBCe1 that is involved in transcellular base transport and pH regulation during amelogenesis.
Kurtz, Ira, Paine, Michael L, Wen, Xin
core   +5 more sources