Results 201 to 208 of about 32,945 (208)

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

Molecular Genetics and Metabolism, 2012
Clara D M Van Karnebeek, Sylvia Stöckler-Ipsiroglu   +1 more
exaly  

Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism

European Journal of Paediatric Neurology, 2010
M Thio, A García‐Cazorla, R Artuch
exaly  

Inborn Errors of Metabolism Overview

Pediatric Clinics of North America, 2018
Jean-Marie Saudubray, Angels García-Cazorla   +1 more
exaly  

Inborn errors of metabolism around time of birth

Lancet, The, 2000
Andrew A M Morris
exaly  

Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment

Cell
Chris J Frangieh, Benjamin Izar
exaly  

Inborn errors of pyruvate metabolism

Biochemical Society Transactions, 1983
openaire   +2 more sources

AN INBORN ERROR OF CHOLESTEROL BIOSYNTHESIS

Nutrition Reviews, 2009
openaire   +2 more sources

The porphyrias as inborn errors of metabolism

The American Journal of Medicine, 1957
openaire   +2 more sources