| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8681151 | Brain and Development | 2018 | 7 Pages |
Abstract
This work contributes to the knowledge of PTPS molecular spectrum. The delayed diagnosis of these patients emphasizes the importance of considering BH4 metabolism defects in the differential diagnosis of HPA, especially for countries that are beginning their HPA newborn screening programs.
Keywords
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Developmental Neuroscience
Authors
Cynthia Fernández-Lainez, Isabel Ibarra-González, Miguel Ángel Alcántara-Ortigoza, Liliana Fernández-Hernández, Sergio EnrÃquez-Flores, Ariadna González-del Ángel, Nenad Blau, Beat Thöny, Sara Guillén-López, Leticia Belmont-MartÃnez,