[PDF][PDF] Vitamin D Dependent Rickets Type IB as a Rare Cause of Rickets, Case Report and Literature Review

O Amer, AL Ali - Sch J Med Case Rep, 2022 - saspublishers.com
Aim: The aim of this paper to report one case with vitamin D-dependent rickets, type IB.
Methods: Diagnosis has been established based on physical examination, laboratory …

[PDF][PDF] Rickets: It Is Not Always Nutritional. A Rare Case of Vitamin D-Dependent Rickets (VDDR) Type I

WY To Sharon, CC Fu Antony - J Endo Metabol Res, 2022 - academia.edu
Rickets is typically due to nutritional cause, namely vitamin D and calcium deficiency
worldwide. When there is suboptimal response to conventional vitamin D and calcium …

Case report: vitamin d-dependent rickets, type 1A

M Bastos, M Santos, L Almeida - 2024 - residenciapediatrica.com.br
Vitamin D-dependent rickets type 1A is an inborn error of metabolism that affects the action
of the 1-alpha-hydroxylase, an enzyme responsible for converting 25-hydroxyvitamin D3 into …

Vitamin D dependent rickets type 1 caused by CYP27B1 mutation

CJ Kim - Bone Abstracts, 2019 - bone-abstracts.org
Objectives: Vitamin D dependent rickets type I (VDDR-I) is an autosomal recessive disorder
with impaired activation of vitamin D, caused by mutations in CYP27B1. Characteristic …

Delayed diagnosis in Vitamin D-dependent rickets type II results in severe skeletal deformities.

E Sohail, T Ahsan, R Jabeen, UL Rehman… - JPMA. The Journal of …, 2022 - europepmc.org
Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder
caused by a vitamin D receptor gene mutation, leading to end-organ resistance to 1, 25 …

[PDF][PDF] Vitamin D-Dependent Rickets: Eight cases.

Y Cesur, SA Yuca, MS Bektaş… - … Journal of General …, 2016 - pdfs.semanticscholar.org
Objective: Vitamin D is essential for bone development and health, and deficiency resulting
in rickets and skeletal deformities is seen mainly during rapid growth. Hereditary vitamin D …

[PDF][PDF] Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II

SP Yadav, NK Bhatta - Journal of Nepal Paediatric …, 2015 - pdfs.semanticscholar.org
Vitamin D-dependent rickets type II is a rare autosomal recessive disorder. We report 27
months female child with classical rachitic changes, very high level of 25-hydroxy Vitamin D …

[PDF][PDF] Long term follow-up of vitamin D dependent rickets type IA caused by novel mutation in cyp27b1 in a 2.5 years old Pakistani boy: A case report

VR Rai, I Shaikh, S Chachar, M Kulsoom… - J Clin Images Med …, 2022 - jcimcr.org
Rickets usually caused by deficiency of vitamin D and it'sa condition which affects bone
development and leads to softening and weakling of bones in children. But there are rare …

[PDF][PDF] Novel homozygous mutation in CYP27B1 gene of vitamin D dependent rickets type 1A: a case report

M Al Dubayee, R Al Fattouh, F Al Juraibah… - European Journal of …, 2018 - ejmcr.com
Background Vitamin D is a vital hormone in preserving calcium and phosphorus
homeostasis in the body and maintaining normal growth and mineralization of bones [1]. In …

[HTML][HTML] Vitamin D-dependent rickets, type II case report

M Azemi, M Berisha, V Ismaili-Jaha, S Kolgeci… - Materia Socio …, 2014 - ncbi.nlm.nih.gov
Aim: The aim of this work the report of one case with vitamin D-dependent rickets, type II.
Methods: Diagnosis has been established based on anamnesis, physical examination …