10 Artículos
Editorial
Review paper
Acceso abierto | 10 nov 2020
An expanding spectrum of complications in isolated methylmalonic aciduria
y Acceso abierto | 10 nov 2020
Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations
Acceso abierto | 10 nov 2020
Hormonal dysfunction in adult patients affected with inherited metabolic disorders
Acceso abierto | 02 oct 2020
When to measure plasma homocysteine and how to place it in context: The homocystinurias
Acceso abierto | 02 oct 2020
The switch in the diagnosis of mitochondrial diseases from the classical ‘function first’ to the NGS-based ‘genetics first’ diagnostic era
, , y Acceso abierto | 02 oct 2020
A holistic approach to the patients/Families with inborn errors of metabolism
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