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Chapter-3.2 Defects of Amino Acid Metabolism

BOOK TITLE: PG Textbook of Pediatrics: General Pediatrics and Neonatology (Volume 1)

Author

1. Jalan Anil B
2. Kudalkar Ketki V

ISBN

9789351527251

DOI

10.5005/jp/books/12853_3.2

Edition

1/e

Publishing Year

2015

Pages

Author Affiliations

1. 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
2. Navi Mumbai Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India, NIRMAN, Navi Mumbai, Maharashtra, India, NIRMAN, Institute of Research in Mental and Neurological Handicap, Navi Mumbai, Maharashtra, India

Chapter keywords

Aminoacidopathies, amino acid, cerebrospinal fluid, CSF, phenylketonuria, PKU, Tyrosinemia type I, nonketotic hyperglycinemia, NKHG, gyrate atrophy, hartnup disease, cystinuria

Abstract

Abstract

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