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Chapter-10.1 Pitfalls in the Diagnosis of Peroxisomal Disorders

BOOK TITLE: Pitfalls in the Diagnosis of Neurological Disorders

Author

1. Muthusamy Karthik
2. Jain Shikha
3. Umakant Bidkar Sayli

ISBN

9789354656668

DOI

10.5005/jp/books/18677_56

Edition

1/e

Publishing Year

2022

Pages

Author Affiliations

1. Christian Medical College, Vellore, Tamil Nadu, India, Mayo Clinic, Jacksonville, Florida, USA
2. Dr Ram Manohar Lohia Hospital, New Delhi, India, BJ Medical College, Ahmedabad, Gujarat, India, All India Institute of Medical Sciences, Nagpur, Maharashtra, India
3. Christian Medical College, Vellore, Tamil Nadu, India

Chapter keywords

Peroxisomal disorder, peroxisomal disorder diagnosis, very long-chain fatty acid, clinical feature, biochemical screening, genetic diagnosis, management, X-linked adrenoleukodystrophy, Addison‐only disease, neuroimaging, bone marrow transplantation, gene therapy

Abstract

Abstract

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