We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. The toddler had novel compound heterozygous mutations in the ligand-binding site of the vitamin D receptor and had an excellent response to calcitriol (1,25(OH)2D).
from #AlexandrosSfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2qRAKza
via IFTTT
Εγγραφή σε:
Σχόλια ανάρτησης (Atom)
Δημοφιλείς αναρτήσεις
-
Purpose: Loss of volume in the sub-brow fat pad with associated descent of the eyebrow is a common anatomical finding resulting in both func...
-
Publication date: October 2017 Source: International Journal of Biological Macromolecules, Volume 103 Author(s): Mingan Yu, Duqiang Liu, ...
-
Abstract Endurance exercise generates CO 2 via aerobic metabolism; however, its role remains unclear. Exogenous CO 2 by transcutaneous d...
-
Publication date: Available online 13 April 2017 Source: Biochimica et Biophysica Acta (BBA) - Molecular Cell Research Author(s): Marcos J...
-
Daily Mail Sarah was diagnosed with the cancer that killed Steve Jobs Daily Mail The symptoms Sarah Smith experienced on and off for...
-
Chapter 1 Introduction Background of the Study Cockroaches are common pests in the tropics. They have been known to cause allergic reactions...
-
from #AlexandrosSfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2D1FTOq via IFTTT
-
Medicine by Alexandros G. Sfakianakis BioMed Research International BioMed Research InternationalTanshinone IIA Alleviates CCL2-Induced Le...
-
The discovery that the Krebs cycle, which is essential for life, can occur in the absence of enzymes suggests that life’s origins were surp...
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου