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

Oculomyiasis: An overview

Rajendra Prakash Maurya*, Shankar Narayan A

Serum neutrophil gelatinase-associated lipocalin as an early biomarker of acute kidney injury in subjects undergoing percutaneous transluminal coronary angiogram with normal EGFR

Shylaja.T.V, Amit Sonagra, Asmabi Makandar, Patnaik, Shanthinaidu

Addiction behavior practiced by the Adolescent: An observational cross-sectional study

Manoj Kumar Yadav, Ashok Maan, S S Chaudhary, Manisha

Clinicopathological spectrum of ovarian neoplasms in pre and post menopausal Indian women

Vedita Bobde, Shirish Kawthalkar, Dinkar Kumbhalkar

To observe the clinical presentation of seizure disorder in 0-1 month age group

Prachi Goyal, Prashant Kumar Choudhary, Ali Mehdi Johar

Adenomatoid odontogenic tumor in mandible — A rare case report

Malvika Panchal Sharma, Dhirendra Srivastava, Binita Srivastava

Mechanical ventilation in trauma-the first 24 hours: A retrospective analysis

Rakesh Kumar, Amit Sharma, U Naga Satish

Oral hygiene status among 5 to 15-year-old children stomatology National Hospital in Kabul city

Shamila Azimi*

The antiepileptic promise of Vigna unguiculata (L.) Walp (Cowpea): A preclinical investigation in rats

Swagata Shailendra Godabole, Vishnu A Kangralkar, Pramod Ganapati Nikam, Damodar Goundar