Results 171 to 180 of about 34,801 (222)

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia. [PDF]

BMC Genom Data
Sahli C, Mabrouk S, Jemmeli N, Nouir S, Ltaifa R, Messaoud T, Abdennebi HB, Ferchichi S, Ghorbel M, Laradi S, Chkioua L.   +10 more
europepmc   +1 more source

Vitamin D: Nutritional Programming During the First 1000 Days of Life. [PDF]

Nutrients
Sortino C, Carta M, Bonacasa C, Candela E, Notarbartolo V, Sollena LM, Giuffrè M.   +6 more
europepmc   +1 more source

Current advances of bone homeostasis imbalance in the cause of hereditary metabolic bone diseases. [PDF]

EFORT Open Rev
Dai X, Wang Y, Huang X, Meng Z, Zheng P.
europepmc   +1 more source

Fifteen-minute consultation: Modern diagnostic approach to the child with recurrent fractures. [PDF]

Arch Dis Child Educ Pract Ed
Blaschitz A, Högler W.
europepmc   +1 more source

Variants of unknown significance are common in brushite stone formers undergoing genetic testing for nephrolithiasis. [PDF]

Urolithiasis
Paneque T, Berst K, Sambharia M, Swee M, Kimble M, Mansilla MA, Freese M, Thomas CP, Tracy CR, Steinberg RL.   +9 more
europepmc   +1 more source

Composite Phenotype: Recurrent Nephrolithiasis and Chronic Kidney Disease in an Adult with Biallelic <italic>SLC34A3</italic> and Monoallelic <italic>SLC3A1</italic> Pathogenic Variants - Who Is "The Culprit"?

Kidney Blood Press Res
Olarewaju BA, Sabrowsky S, Shurrab S, Moyer AM, Keddis MT, Osundiji MA.   +5 more
europepmc   +1 more source

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[Rickets].

Nederlands tijdschrift voor geneeskunde, 2003
Rickets, once thought vanquished, is reappearing. In some less developed countries it hardly went away. This seminar reviews the effects of genes, stage of development, and environment on clinical expression of the disease. Rickets can be secondary to disorders of the gut, pancreas, liver, kidney, or metabolism; however, it is mostly due to nutrient ...
Brian, Wharton, Nick, Bishop
openaire   +5 more sources

Rickets

Pediatric Emergency Care, 2011
Rickets is disorder of a growing child arising from disorders that result in impaired apoptosis of hypertrophic cells and mineralization of the growth plate. Rickets due to nutritional causes remains an important global problem. The factors responsible for resurgence of rickets among dark-skinned infants living in developed countries include the ...
Mary G, Mallon, Avrum N, Pollock
openaire   +4 more sources