Description
Paras Medical Books Pvt Ltd Scotts Pediatricks Specialty Series Genetic and Inherited Metabolic Disorders in Children 1st Edition 2021 by Umamaheswari Balakrishnan
Key Features of this book
❖ Chapters written by enthusiastic authors with keen interest in the field of genetic and metabolic disorders in children.
❖ Comprehensive book apt for both pediatric and genetic postgraduate trainees.
❖ Suitable for clinicians involved in managing children with genetic or metabolic conditions.
❖ Chapters are chosen strategically to include all important aspects in this subject.
❖ Defined objectives and summary of key features are set out for every chapter.
❖ Algorithms, flow charts, illustrations and tables provided to facilitate learning.
❖ Insight into specialized therapy on genetic and metabolic disorders in a simplified.
Preface
It takes immense pleasure in bringing the book on “Genetic and Inherited metabolic disorders in children”. With the completion of the whole genome sequencing project, advances in prenatal diagnostic evaluation, availability of enzyme replacement therapy, the field of genetic and metabolic medicine has transformed into an essential discipline on its own. Every pediatrician must acquire knowledge in this important
field. During the Pediatric training, many residents consider this subject as enigma highlighting the need for a textbook explaining the concepts in a simplified way. When Dr. Scott conceived the idea of Speciality series, I was excited to bring a book exclusively on genetic and metabolic disorders in children as a part of Scott’s Pedi-Tricks Specialty Series.
As a neonatologist, I happened to get involved in counseling pregnant women with previous children affected, which encouraged me to equip myself to help these needy families. At the same time, my mentor Prof. Binu Ninan (then HOD, Neonatology SRIHER) motivated me to consider specializing in this branch of genetic and metabolic medicine. We initiated the “Sri Ramachandra Center of Excellence in Perinatal health” wherein these children and high-risk women are managed. I had my initial training in Fetal Care Research foundation under Dr. Sujatha Jagadeesh (Head, Clinical Genetics Mediscan Systems) in Chennai and subsequently involved in conducting regular metabolic clinics with the support of Dr. Anil Jalan.(Visiting metabolic consultant SRMC) Later, training in Australia under Dr. Avihu Boneh (the then clinical lead of Metabolic Division RCH, Melbourne) helped to deepen my understanding.
Contents:
Chapter 1: Introduction to Genetics
Chapter 2: Malformations
Chapter 3: Chromosomal Disorders
Chapter 4: Microdeletion and Imprinting disorders
Chapter 5: Single Gene Disorders
Chapter 6: Genetic Counseling and Prenatal Diagnosis
Chapter 7: Genetic Testing Techniques
Chapter 8: Inborn errors of Metabolism
Chapter 9: Protein Metabolic Disorders
Chapter 10: Carbohydrate & Lipid Metabolic Disorders
Chapter 11: Lysosomal Storage Disorders and Peroxisomal Disorders
Chapter 12: Porphyrin Metabolism / Metal Disorders / Vitamin Metabolism
Chapter 13: Mitochndrial Disorders
Chapter 14: Therapy of Genetic / Metabolic Disorders
Question Bank.
Index.