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Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults

open access: yesEndokrynologia Polska, 2021
Hypophosphataemic rickets (HR) is a genetic disorder causing defects in the renal handling of phosphorus, resulting in rickets. HR can be classified into two groups.
Nahid Tavana   +3 more
doaj   +1 more source

A practical approach to diagnose and treat rickets [PDF]

open access: yesĶazaķstannyṇ Klinikalyķ Medicinasy, 2021
Rickets is a disease of growing bone, before fusion of epiphyses. There is defective mineralization of cartilage matrix in the zone of provisional calcification caused either by nutritional vitamin D deficiency and/or low calcium intake or by non ...
Aditi Jaiman   +3 more
doaj   +1 more source

An Overview of Rickets in Children

open access: yesKidney International Reports, 2020
Rickets is a common bone disease worldwide that is associated with disturbances in calcium and phosphate homeostasis and can lead to short stature and joint deformities.
Rahul Chanchlani   +7 more
doaj   +1 more source

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

open access: yes, 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   +10 more sources

Rickets in Children: An Update

open access: yesBiomedicines, 2021
Rickets refers to a deficient mineralization of the growth plate cartilage, predominantly affecting longer bones. Despite the fact that preventive measures are available, it is still a common disease worldwide; nutritional rickets, due to vitamin D ...
Cristina Gentile, Francesco Chiarelli
doaj   +1 more source

Congenital Rickets [PDF]

open access: yesJournal of Tropical Pediatrics, 2003
Although rickets in premature newborns is known to occur, term babies presenting at birth is uncommon. We report a term baby born to a mother with osteomalacia, and presented at birth with signs of florid rickets which was confirmed biochemically. After 4 weeks of treatment, radiological signs of healing were seen.
Arjit, Mohapatra   +5 more
openaire   +2 more sources

Rickets-vitamin D deficiency and dependency

open access: yesIndian Journal of Endocrinology and Metabolism, 2012
Rickets is an important problem even in countries with adequate sun exposure. The causes of rickets/osteomalacia are varied and include nutritional deficiency, especially poor dietary intake of vitamin D and calcium.
Manisha Sahay, Rakesh Sahay
doaj   +1 more source

Burosumab therapy in children with x-linked hypophosphatemia [PDF]

open access: yes, 2018
BACKGROUND X-linked hypophosphatemia is characterized by increased secretion of fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently rickets, osteomalacia, and skeletal deformities.
Boot, Annemieke M   +13 more
core   +2 more sources

Nutritional rickets among children admitted with severe pneumonia at Mulago hospital, Uganda: a cross-sectional study

open access: yesBMC Pediatrics, 2018
Background There’s abundant sunshine in the tropics but severe rickets is still observed. Nutritional rickets is associated with an increased risk of acute lower respiratory infections.
Thereza Piloya   +5 more
doaj   +1 more source

Ideology and disease identity : the politics of rickets, 1929-1982 [PDF]

open access: yes, 2013
How can we assess the reciprocal impacts of politics and medicine in the contemporary period? Using the example of rickets in twentieth century Britain, I will explore the ways in which a preventable, curable non-infectious disease came to have enormous ...
Apple   +50 more
core   +1 more source

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