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Chapter-12.1 Hereditary Metabolic Disorders

BOOK TITLE: Schachner and Hansen’s Pediatric Dermatology

Author
1. Cossio María-Laura
2. McCuaig Catherine C
ISBN
9789352703005
DOI
10.5005/jp/books/18588_47
Edition
5/e
Publishing Year
2023
Pages
32
Author Affiliations
1. Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile
2. CHU Sainte-Justine, University of Montreal, Montreal, Quebec, Canada
Chapter keywords
Hereditary metabolic disorder, amino acid disorder, phenylketonuria, phenylalanine hydroxylase, PAH, epidemiology, genetics, pathophysiology, differential diagnosis, treatment, prognosis, homocystinurias, alkaptonuria, hartnup disorder, metal transport disorder, Wilson’s disease

Abstract

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