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Section-03 Metabolic Disorders

BOOK TITLE: PG Textbook of Pediatrics (3 Volumes)

Author
1. Rupar CA
2. Arora Veronica
3. Kamila Gautam
4. Mishra Ranjana
5. Jalan Rishikesh A
6. Korson Mark
7. Tamhankar Parag M
8. Bijarnia-Mahay Sunita
9. Kudalkar Ketki V
10. Jalan Anil B
11. Kabra Madhulika
12. Prasad Chitra
13. Goyal Manisha
14. Chakrabarty Biswaroop
15. Verma Ishwar C
16. Muranjan Mamta
17. Gupta Neerja
18. Kapoor Seema
19. Gulati Sheffali
ISBN
9789354651212
DOI
10.5005/jp/books/18460_4
Edition
3/e
Publishing Year
2022
Pages
121
Author Affiliations
1. Schulich School of Medicine and Dentistry, Western University, Canada, London Health Sciences Centre, London, ON, Canada
3. All India Institute of Medical Sciences, New Delhi, India
4. Maulana Azad Medical College; Lok Nayak Hospital, New Delhi, India
5. NIRMAN, Navi Mumbai, Maharashtra, India, Navi Mumbai Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India
6. VMP Genetics, LLC, Atlanta, Georgia, USA
7. ICMR Genetic Research Center, National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India, Medgenome Labs, Bengaluru, Karnataka, India
8. Ganga Ram Institute of Postgraduate Medical Education and Research; Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate Medical Education and Research, Sir Ganga Ram Hospital, New Delhi, India, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, Sir Ganga Ram Hospital, New Delhi; Sir Ganga Ram Hospital (SGRH), New Delhi, India, Ganga Ram Institute of Postgraduate, Medical Education and Research, Indraprastha University; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
9. NIRMAN, Navi Mumbai, Maharashtra, India, NIRMAN, Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India, Navi Mumbai Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India
10. Navi Mumbai Institute of Research in Mental and Neuro Handicap, Navi Mumbai, Maharashtra, India, NIRMAN, Navi Mumbai, Maharashtra, India, Navi Mumbai Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India
11. AIIMS, New Delhi, India, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India, All India Institute of Medical Sciences Ansari Nagar, New Delhi, India, All India Institute of Medical Sciences, New Delhi 110029, India, All India Institute of Medical Sciences, New Delhi, All India Institute of Medical Sciences (AIIMS), New Delhi, India, New Delhi, All India Institutes of Medical Sciences (AIIMS), New Delhi, India, All India Institute of Medical Sciences, New Delhi, India
12. Western University; Metabolic Clinic and Newborn Screening, London Health Sciences Center, Ontario, Canada, London Health Sciences Centre, London, ON, Canada
13. Maulana Azad Medical College, New Delhi, India, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India, JK Lon Hospital, SMS Medical College, Jaipur, Rajasthan, India, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India
14. All India Institute of Medical Sciences, New Delhi, India, AIIMS, New Delhi, India
15. Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate Medicine and Research, New Delhi, India
16. KEMH, Mumbai, Genetic Clinic, Seth GS Medical College and KEM Hospital; PD Hinduja National Hospital and Research Center, Mumbai, Maharashtra, India, Genetic Clinic, Seth GS Medical College and KEM Hospital, Parel, Mumbai; Medical Research Center Mahim, Mumbai, SRCC Hospital, Mumbai, Maharashtra, India, Seth GS Medical College and King Edward Memorial Hospital, PD Hinduja National Hospital and Medical Research Centre and NH SRCC Children’s Hospital, Mumbai, Maharashtra, India, Seth GS Medical College and KEM Hospital; PD Hinduja National Hospital and Research Center, Mumbai, Maharashtra, India
17. All India Institute of Medical Sciences, New Delhi, India, All India Institute of Medical Sciences, New Delhi 110029, India, New Delhi, All India Institute of Medical Sciences (AIIMS), New Delhi, India
18. MAM College, Delhi, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India, Maulana Azad Medical College and Associated Lok Nayak Hospital, New Delhi, India, Lok Nayak Hospital, Maulana Azad Medical College, New Delhi, India, Maulana Azad Medical College, New Delhi India, Maulana Azad Medical College, New Delhi, India
19. All India Institute of Medical Sciences (AIIMS), New Delhi, India, All India Institute of Medical Sciences, New Delhi; Centre of Excellence and Advanced, Research for Childhood, Neurodevelopmental Disorders, Center of Excellence and Advanced Research for Childhood Neurodevelopmental Disorders; All India Institute of Medical Sciences, New Delhi, India, AIIMS, New Delhi, India, All India Institute of Medical Sciences, New Delhi, All India Institute of Health Sciences, New Delhi, India, All India Institute of Medical Sciences, New Delhi, India, e-mail: sheffalig@hotmail.com, All India Institute of Medical Sciences, New Delhi, India
Chapter keywords
Metabolic disorder, inborn errors of metabolism, IEM, amino acid metabolism, branched-chain amino acid, phenylalanine catabolism, tyrosine catabolism, sulfur amino acid metabolism, glycine catabolism, urea cycle disorder, organic acidemia, fatty acid oxidation defect, mitochondrial disorder, peroxisomal disorder, lysosomal storage disorder, Gaucher disease, Niemann-Pick disease, Fabry disease, carbohydrate metabolism

Abstract

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