Rare Genetic Disorders: Unraveling the Pathophysiology, Gene Mutations, and Therapeutic Advances in Fabry Disease and Marfan Syndrome

Authors : Goutam Biswas, Nithar Ranjan Madhu, Bhanumati Sarkar, Soumosish Paul, Hadi Erfani, Qamre Alam

DOI : 10.1007/978-981-99-9323-9_7

Volume : 1

Issue : 1

Year : 2024

Page No : 199-219


Citation Data


Related Articles

BARRIERS TO ACADEMIC PERFORMANCE AMONG UNDERGRADUATE FIRST-GENERATION STUDENTS AT A PREVIOUSLY DISADVANTAGED UNIVERSITY IN SOUTH AFRICA

Mariska Pienaar, Anita Padmanabhanunni, Mario Smith

A prospective study to compare oral mifepristone and dinoprostone gel in induction of labour in primigravida

Gomathy E, Neha B S*

Evaluation of osteonectin as a diagnostic marker of osteogenic bone tumors

Murad Ahmad, Sadaf Mirza, Kafil Akhtar, Rana K. Sherwani, Khalid A Sherwani

Solubility: An overview

Amar Pal Singh, Narinder Singh, Ajeet Pal Singh

Advanced drug delivery systems: Nanotechnology of health design and its potential clinical Application

Mayurdhvajsinh R Sindha, Jimishaben D Kher

A 5-years cross-sectional study of risk-factors feto-maternal outcomes in placenta accreta spectrum at single tertiary care centre in South India

Shridevi Chidanand Metgud, Gauri Abhishek Prabhu, Prasad Murigendrappa Renuka

Seasonal variations in the incidence of preeclampsia-eclampsia in Bayelsa state in the Niger Delta Region of Nigeria

Ikeanyi M Eugene, Abasi J Isaac

Selfie’s and orthodontics - A narrative review

Pragya Behl, Amanish Singh Shinh, Pritesh Singla, Amanpreet Singh Natt, Karan Maheshwari, Sharnjeet Kaur

Inflammatory cell distribution accrediting Th2 inflammation in Sinonasal polyp in Indian Population

Priyanka Kumari, Reecha Singh, Sarita Kumari Mishra, Prateek Kumar, Piyush Prakash, Rakesh Kumar Singh